Channelopathies: A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.Paralyses, Familial Periodic: A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)Hypokalemic Periodic Paralysis: An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)Myotonic Disorders: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.Myotonia: Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.Paralysis, Hyperkalemic Periodic: An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)Isaacs Syndrome: A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.Long QT Syndrome: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.NAV1.5 Voltage-Gated Sodium Channel: A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of CARDIOMYOCYTES. Defects in the SCN5A gene, which codes for the alpha subunit of this sodium channel, are associated with a variety of CARDIAC DISEASES that result from loss of sodium channel function.NAV1.4 Voltage-Gated Sodium Channel: A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of SKELETAL MYOCYTES. Defects in the SCN4A gene, which codes for the alpha subunit of this sodium channel, are associated with several MYOTONIC DISORDERS.Sodium Channels: Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function.Brugada Syndrome: An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.Myopathy, Central Core: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)Nervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Ion Channels: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for ION CHANNEL GATING can be due to a variety of stimuli such as LIGANDS, a TRANSMEMBRANE POTENTIAL DIFFERENCE, mechanical deformation or through INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS.Sudden Infant Death: The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Arrhythmias, Cardiac: Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.Malignant Hyperthermia: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Potassium Channels, Inwardly Rectifying: Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.Ion Channel Gating: The opening and closing of ion channels due to a stimulus. The stimulus can be a change in membrane potential (voltage-gated), drugs or chemical transmitters (ligand-gated), or a mechanical deformation. Gating is thought to involve conformational changes of the ion channel which alters selective permeability.Potassium Channels, Voltage-Gated: Potassium channel whose permeability to ions is extremely sensitive to the transmembrane potential difference. The opening of these channels is induced by the membrane depolarization of the ACTION POTENTIAL.Death, Sudden, Cardiac: Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)Calcium Channels: Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue.Chloride Channels: Cell membrane glycoproteins that form channels to selectively pass chloride ions. Nonselective blockers include FENAMATES; ETHACRYNIC ACID; and TAMOXIFEN.Chlorides: Inorganic compounds derived from hydrochloric acid that contain the Cl- ion.Clathrin Light Chains: The light chain subunits of clathrin.Biophysics: The study of PHYSICAL PHENOMENA and PHYSICAL PROCESSES as applied to living things.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Biophysical Phenomena: The physical characteristics and processes of biological systems.Ligand-Gated Ion Channels: A subclass of ion channels that open or close in response to the binding of specific LIGANDS.Research: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)Acid Sensing Ion Channels: A family of proton-gated sodium channels that are primarily expressed in neuronal tissue. They are AMILORIDE-sensitive and are implicated in the signaling of a variety of neurological stimuli, most notably that of pain in response to acidic conditions.Microvascular Angina: ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease.Epilepsies, Myoclonic: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).NAV1.1 Voltage-Gated Sodium Channel: A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.Myoclonic Epilepsy, Juvenile: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Epilepsy, Generalized: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Consensus Development Conferences as Topic: Presentations of summary statements representing the majority agreement of physicians, scientists, and other professionals convening for the purpose of reaching a consensus--often with findings and recommendations--on a subject of interest. The Conference, consisting of participants representing the scientific and lay viewpoints, is a significant means of evaluating current medical thought and reflects the latest advances in research for the respective field being addressed.Consensus: General agreement or collective opinion; the judgment arrived at by most of those concerned.Defibrillators, Implantable: Implantable devices which continuously monitor the electrical activity of the heart and automatically detect and terminate ventricular tachycardia (TACHYCARDIA, VENTRICULAR) and VENTRICULAR FIBRILLATION. They consist of an impulse generator, batteries, and electrodes.Societies, Medical: Societies whose membership is limited to physicians.EuropePractice Guidelines as Topic: Directions or principles presenting current or future rules of policy for assisting health care practitioners in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery.Andersen Syndrome: A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.Myotonia Congenita: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.

Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits. (1/102)

The pore-forming alpha subunits of voltage-gated calcium channels contain the essential biophysical machinery that underlies calcium influx in response to cell depolarization. In combination with requisite auxiliary subunits, these pore subunits form calcium channel complexes that are pivotal to the physiology and pharmacology of diverse cells ranging from sperm to neurons. Not surprisingly, mutations in the pore subunits generate diverse pathologies, termed channelopathies, that range from failures in excitation-contraction coupling to night blindness. Over the last decade, major insights into the mechanisms of pathogenesis have been derived from animals showing spontaneous or induced mutations. In parallel, there has been considerable growth in our understanding of the workings of voltage-gated ion channels from a structure-function, regulation and cell biology perspective. Here we document our current understanding of the mutations underlying channelopathies involving the voltage-gated calcium channel alpha subunits in humans and other species.  (+info)

Voltage-gated calcium channels in genetic diseases. (2/102)

Voltage-gated calcium channels (VGCCs) mediate calcium entry into excitable cells in response to membrane depolarization. During the past decade, our understanding of the gating and functions of VGCCs has been illuminated by the analysis of mutations linked to a heterogeneous group of genetic diseases called "calcium channelopathies". Calcium channelopathies include muscular, neurological, cardiac and vision syndromes. Recent data suggest that calcium channelopathies result not only from electrophysiological defects but also from altered alpha(1)/Ca(V) subunit protein processing, including folding, posttranslational modifications, quality control and trafficking abnormalities. Overall, functional analyses of VGCC mutations provide a more comprehensive view of the corresponding human disorders and offer important new insights into VGCC function. Ultimately, the understanding of these pathogenic channel mutations should lead to improved treatments of such hereditary diseases in humans.  (+info)

Emerging perspectives in store-operated Ca2+ entry: roles of Orai, Stim and TRP. (3/102)

Depletion of intracellular Ca2+ stores induces Ca2+ influx across the plasma membrane through store-operated channels (SOCs). This store-operated Ca2+ influx is important for the replenishment of the Ca2+ stores, and is also involved in many signaling processes by virtue of the ability of intracellular Ca2+ to act as a second messenger. For many years, the molecular identities of particular SOCs, as well as the signaling mechanisms by which these channels are activated, have been elusive. Recently, however, the mammalian proteins STIM1 and Orai1 were shown to be necessary for the activation of store-operated Ca2+ entry in a variety of mammalian cells. Here we present molecular, pharmacological, and electrophysiological properties of SOCs, with particular focus on the roles that STIM1 and Orai1 may play in the signaling processes that regulate various pathways of store-operated entry.  (+info)

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. (4/102)

Transmembrane chloride ion conductance in skeletal muscle increases during early postnatal development. A transgenic mouse model of myotonic dystrophy type 1 (DM1) displays decreased sarcolemmal chloride conductance. Both effects result from modulation of chloride channel 1 (CLCN1) expression, but the respective contributions of transcriptional vs. posttranscriptional regulation are unknown. Here we show that alternative splicing of CLCN1 undergoes a physiological splicing transition during the first 3 wk of postnatal life in mice. During this interval, there is a switch to production of CLCN1 splice products having an intact reading frame, an upregulation of CLCN1 mRNA encoding full-length channel protein, and an increase of CLCN1 function, as determined by patch-clamp analysis of single muscle fibers. In a transgenic mouse model of DM1, however, the splicing transition does not occur, CLCN1 channel function remains low throughout the postnatal interval, and muscle fibers display myotonic discharges. Thus alternative splicing is a posttranscriptional mechanism regulating chloride conductance during muscle development, and the chloride channelopathy in a transgenic mouse model of DM1 results from a failure to execute a splicing transition for CLCN1.  (+info)

TRPpathies. (5/102)

Many human diseases are caused by mutations in ion channels. Dissecting the pathogenesis of these 'channelopathies' has yielded important insights into the regulation of vital biological processes by ions and has become a productive tool of modern ion channel biology. One of the best examples of a synergism between the clinical and basic science aspects of a modern biological topic is cystic fibrosis. Not only did the identification of the ion channel mutated in cystic fibrosis pinpoint the root cause of this disease, but it also has significantly advanced our understanding of basic biological processes as diverse as protein folding and epithelial fluid and electrolyte secretion. The list of confirmed 'channelopathies' is growing and several members of the TRP family of ion channels have been implicated in human diseases such as mucolipidosis type IV (MLIV), autosomal dominant polycystic kidney disease (ADPKD), familial focal segmental glomerulosclerosis (FSG), hypomagnesemia with secondary hypocalcaemia (HSH), and several forms of cancer. Analysing pathogenesis of the diseases linked to TRP dysregulation provides an exciting means of identifying novel functions of TRP channels.  (+info)

Transient receptor potential cation channels in disease. (6/102)

The transient receptor potential (TRP) superfamily consists of a large number of cation channels that are mostly permeable to both monovalent and divalent cations. The 28 mammalian TRP channels can be subdivided into six main subfamilies: the TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPP (polycystin), TRPML (mucolipin), and the TRPA (ankyrin) groups. TRP channels are expressed in almost every tissue and cell type and play an important role in the regulation of various cell functions. Currently, significant scientific effort is being devoted to understanding the physiology of TRP channels and their relationship to human diseases. At this point, only a few channelopathies in which defects in TRP genes are the direct cause of cellular dysfunction have been identified. In addition, mapping of TRP genes to susceptible chromosome regions (e.g., translocations, breakpoint intervals, increased frequency of polymorphisms) has been considered suggestive of the involvement of these channels in hereditary diseases. Moreover, strong indications of the involvement of TRP channels in several diseases come from correlations between levels of channel expression and disease symptoms. Finally, TRP channels are involved in some systemic diseases due to their role as targets for irritants, inflammation products, and xenobiotic toxins. The analysis of transgenic models allows further extrapolations of TRP channel deficiency to human physiology and disease. In this review, we provide an overview of the impact of TRP channels on the pathogenesis of several diseases and identify several TRPs for which a causal pathogenic role might be anticipated.  (+info)

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. (7/102)

BACKGROUND: A 53-year-old female presented with a 10-year history of paroxysmal atrial fibrillation (AF), precipitated by activity and refractory to medical therapy. In the absence of traditional risk factors for disease, a genetic defect in electrical homeostasis underlying stress-induced AF was explored. INVESTIGATIONS: Echocardiography, cardiac perfusion stress imaging, invasive electrophysiology with isoproterenol provocation, genomic DNA sequencing of K(ATP) channel genes, exclusion of mutation in 2,000 individuals free of AF, reconstitution of channel defect with molecular phenotyping, and verification of pathogenic link in targeted knockout. DIAGNOSIS: K(ATP) channelopathy caused by missense mutation (Thr1547Ile) of the ABCC9 gene conferring predisposition to adrenergic AF originating from the vein of Marshall. MANAGEMENT: Disruption of arrhythmogenic gene-environment substrate at the vein of Marshall by radiofrequency ablation.  (+info)

TRP channels in disease. (8/102)

"Transient receptor potential" cation channels (TRP channels) play a unique role as cell sensors, are involved in a plethora of Ca(2+)-mediated cell functions, and play a role as "gate-keepers" in many homeostatic processes such as Ca(2+) and Mg(2+) reabsorption. The variety of functions to which TRP channels contribute and the polymodal character of their activation predict that failures in correct channel gating or permeation will likely contribute to complex pathophysiological mechanisms. Dysfunctions of TRPs cause human diseases but are also involved in a complex manner to contribute and determine the progress of several diseases. Contributions to this special issue discuss channelopathias for which mutations in TRP channels that induce "loss-" or "gain-of-function" of the channel and can be considered "disease-causing" have been identified. The role of TRPs will be further elucidated in complex diseases of the intestinal, renal, urogenital, respiratory, and cardiovascular systems. Finally, the role of TRPs will be discussed in neuronal diseases and neurodegenerative disorders.  (+info)

The "Hot Topic Keynotes: Channelopathies" session of the 26th International Neurotoxicology Conference brought together toxicologists studying interactions of environmental toxicants with ion channels, to review the state of the science of channelopathies and to discuss the potential for interactions between environmental exposures and channelopathies. This session presented an overview of chemicals altering ion channel function and background about different channelopathy models. It then explored the available evidence that individuals with channelopathies may or may not be more sensitive to effects of chemicals. Dr. Tim Shafer began his presentation by defining what channelopathies are and presenting several examples of channelopathies. Channelopathies are mutations that alter the function of ion channels such that they result in clinically-definable syndromes including forms of epilepsy, migraine headache, ataxia and other neurological and cardiac syndromes (Kullmann, 2010). Because of the ...
This Research Topic is cross-listed in the Frontiers in Physiology section: Membrane Physiology and Membrane Biophysics and the Frontiers in Pharmacology section: Pharmacology of Ion Channels and Channelopathies Ion channels are specialized membrane proteins responsible for the ions fluxes across the membrane of all cells of the human body. They open in response to voltage changes or binding of a chemical messenger, such as a neurotransmitter (i.e. ligand-gated ion channels). These proteins play heterogeneous and often critical physiological roles in both excitable and non-excitable cells, such as impulse generation and propagation, synaptic transmission and plasticity, hormonal secretion, hearth rhythm, blood pressure regulation, salt-water balance, cell proliferation and survival, to mention a few. As a consequence, it is no surprise that defects in ion channels function may cause diverse and severe diseases collectively known as channelopathies, which
Voltage-gated sodium channels belong to the superfamily of voltage-gated cation channels. Their structure is based on domains comprising a voltage sensor domain (S1-S4 segments) and a pore domain (S5-S6 segments). Mutations in positively charged residues of the S4 segments may allow protons or cations to pass directly through the gating pore constriction of the voltage sensor domain; these anomalous currents are referred to as gating pore or omega (ω) currents. In the skeletal muscle disorder hypokalemic periodic paralysis, and in arrhythmic dilated cardiomyopathy, inherited mutations of S4 arginine residues promote omega currents that have been shown to be a contributing factor in the pathogenesis of these sodium channel disorders ...
TY - JOUR. T1 - Advances in cardiac ATP-Sensitive K + channelopathies from molecules to populations. AU - Terzic, Andre. AU - Alekseev, Alexey E.. AU - Yamada, Satsuki. AU - Reyes, Santiago. AU - Olson, Timothy Mark. PY - 2011/8. Y1 - 2011/8. N2 - Deficient cellular energetics set by aberrant K ATP channel function increasingly is implicated in a spectrum of conditions underlying metabolic imbalance and electric instability. 5 Indeed, cardiac K ATP channelopathies are emerging as a recognized disease entity underlying heart failure and arrhythmia. 19 Understanding the molecular structure and function of K ATP channel subunits, 8 and their relationship to cellular metabolic signaling, 99 has been instrumental in interpreting the pathophysiology of channel malfunction associated with heart disease predisposition (Figure 3). 12 From individual patients to populations, variants in K ATP channel genes now have been documented in human dilated cardiomyopathy 21 and atrial fibrillation 20 and as risk ...
Takano, K, Liu, D, Tarpey, P et al 2012, An X-linked Channelopathy with Cardiomegaly due to a CLIC2 Mutation Enhancing Ryanodine Receptor Channel Activity, Human Molecular Genetics, vol. 21, no. 20, pp. 4497-4507. ...
The proposed K99/R00 application incorporates a comprehensive research and training plan for studying ion channels and channelopathies in the olfactory system....
Chloride channels (ClCs) have gained worldwide interest because of their molecular diversity, widespread distribution in mammalian tissues and organs, and their link to various human diseases. Nine different ClCs have been molecularly identified and functionally characterized in mammals. ClC-2 is one of nine mammalian members of the ClC family. It possesses unique biophysical characteristics, pharmacological properties, and molecular features that distinguish it from other ClC family members. ClC-2 has wide organ/tissue distribution and is ubiquitously expressed. Published studies consistently point to a high degree of conservation of ClC-2 function and regulation across various species from nematodes to humans over vast evolutionary time spans. ClC-2 has been intensively and extensively studied over the past two decades, leading to the accumulation of a plethora of information to advance our understanding of its pathophysiological functions; however, many controversies still exist. It is necessary to
Tomorrow, we are seeing our first patient, and he has an arrythmia. Presumably its due to a potassium channel problem, because we had a 56-page review article to read for tomorrow about all these different channelopathies, and that was one of the channel diseases that it mentioned. In college you learn about potassium channels and sodium channels and how they are responsible for action potentials in neurons. But there are also calcium channels and chloride channels that can cause diseases if they arent working properly, and then there are several subtypes of each, as well as other channels that arent specific for a single ion. Some channels are expressed in certain tissues and not in others; some are voltage-gated while others are ligand-gated or voltage-insensitive; some activate or inactivate slower or faster than others do. Its kind of mind-blowing to read about them all ...
Looking for online definition of Channelopathies in the Medical Dictionary? Channelopathies explanation free. What is Channelopathies? Meaning of Channelopathies medical term. What does Channelopathies mean?
Paraspinal compartment syndrome is a rare cause of lower back pain that remains under-recognized and under-treated and which can result in prolonged and debilitating pain..
There are few areas in cardiology in which the impact of genetics and genetic testing on clinical management has been as great as in cardiac channelopathies,arrhythmic disorders of genetic origin related to the ionic control of the cardiac action potential. Among the growing number of diseases identified as channelopathies,3 are sufficiently prevalent to represent significant clinical and societal problems and to warrant adequate understanding by practicing cardiologists: long QT syndrome,catecholaminergic polymorphic ventricular tachycardia,and Brugada syndrome. This review will focus selectively on the impact of genetic discoveries on clinical management of these 3 diseases. For each disorder,we will discuss to what extent genetic knowledge and clinical genetic test results modify the way cardiologists should approach and manage affected patients. We will also address the optimal use of genetic testing,including its potential limitations and the potential medico-legal implications when such ...
Costello, J.P., Wilson, J.K., Louis, C., Peer, S.M., Zurakowski, D. et al. (2015). Surgical cardiac denervation therapy for treatment of congenital ion channelopathies in pediatric patients: a contemporary, single institutional experience. World Journal of Pediatric and Congenital Heart Surgery, 6(1), 33-38.. ...
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... (SQTS) is a rare inherited channelopathy (a disorder that affects the movement of ions through channels within the cell membrane) associated with marked shortened QT intervals and sudden cardiac death (SCD) in individuals with a str
Dr. El-Sherif is an internationally recognized expert in the field of basic and clinical cardiac electrophysiology. He has published over 450 peer reviewed papers, reviews, and book chapters and has authored and co-authored eight books. He is a member of the editorial board of several national and international journals and served on the National Institutes of Health, American Heart Association, and Veterans Affairs Central Office research study groups. His research has been consistently supported by federal and non-federal grants for the last 34 years and has dealt with the link between molecular biology, ion channel physiology, cellular electrophysiology and clinical presentations of cardiac arrhythmias. Dr El-Sherif has made several seminal contributions to understanding electrophysiological mechanisms of cardiac arrhythmias in general and in myocardial ischemia/infarction in particular. His early studies on the canine post-infarction model resulted in the description of the figure-of-eight ...
Dr. El-Sherif is an internationally recognized expert in the field of basic and clinical cardiac electrophysiology. He has published over 450 peer reviewed papers, reviews, and book chapters and has authored and co-authored eight books. He is a member of the editorial board of several national and international journals and served on the National Institutes of Health, American Heart Association, and Veterans Affairs Central Office research study groups. His research has been consistently supported by federal and non-federal grants for the last 34 years and has dealt with the link between molecular biology, ion channel physiology, cellular electrophysiology and clinical presentations of cardiac arrhythmias. Dr El-Sherif has made several seminal contributions to understanding electrophysiological mechanisms of cardiac arrhythmias in general and in myocardial ischemia/infarction in particular. His early studies on the canine post-infarction model resulted in the description of the figure-of-eight ...
Sudden cardiac death (SCD) is the most common cause of mortality worldwide, accounting for more than 3 million deaths annually with estimates in the United States ranging between 300,000 to 350,000 deaths each year. Because SCD is the common endpoint of a variety of heart pathologies that predispose to ventricular arrhythmogenesis (e.g., coronary artery disease, cardiomyopatheis, or channelopathies), therapies that prevent SCD would have a major impact in medical practice as there are few options that currently exist. In the heart, gap junctions function as specialized channels that localize to the boundary between neighboring cardiomyocytes in a structure known as the intercalated disc (ID). Each gap junction is composed of protein subunits called connexins (Cx) that work in concert to maintain a coordinated wave of electrical excitation among cardiomyocytes in order to ensure a proper and synchronized contraction of the myocardium. The precise localization of gap junctions to the ID is established
Results From a total of 582 patients identified, 286 had myotonia congenita, 70 paramyotonia congenita, 23 sodium-channel myotonias, 97 hypokalemic PP, 66 hyperkalemic PP, four normokalemic PP, and 36 Andersen-Tawil syndrome (ATS). 530 patients were from England, giving a point prevalence of 1/100 000. Significant allelic heterogeneity was associated with NDM and ATS. However, a limited number of mutations were responsible for most cases. ...
May 5, 2011 (Updated August 1, 2011) - Genetic testing is increasingly important in determining potential cardiac conditions in patients and is used in clinical settings more than ever before. To ensure that physicians have up-to-date knowledge of the evolving role of genetic testing for sudden death predisposing, genetic heart diseases in cardiology, which can be life-saving for some patients, the Heart Rhythm Society and the European Heart Rhythm Association have prepared HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. The consensus statement was released at Heart Rhythm 2011, the Heart Rhythm Societys 32nd Annual Scientific Sessions.
Andersen-Tawil Syndrome is a genetic condition that causes periods of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and intellectual and developmental abnormalities. Other features can include low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Speak to a genetic counselor or a medical geneticist if you have questions about Andersen-Tawil syndrome. ...
Cardiomyopathies. Introduction. Define Cardiomyopathy Primary Cardiomyopathies Hypertrophic Cardiomyopathy ARVD Ion Channelopathies Dilated Cardiomyopathy Restrictive Cardiomyopathy Myocarditis Others Secondary Cardiomyopathies Infiltrative Disease. Evolving Definition. Slideshow...
Episodic phenomena (epilepsy, migraine, and cardiac arrhythmias) are among the most common disorders afflicting humans. Early in his career, Ptácek began studying patients with rare Mendelian muscle disorders (periodic paralysis) and proposed these as a model of more common episodic disorders. In 1990, he began systematically characterizing genes causing familial forms of periodic paralysis. This series of landmark discoveries identified mutant ion channel genes and laid the groundwork for the field now called the channelopathies. He proposed that all the work in channelopathies of skeletal muscle would be model for episodic disorders of heart and brain. Subsequently, his group and others have identified homologous genes that (when mutated) cause cardiac arrhythmias, epilepsy, and migraine. He has gone from describing new syndromes to cloning causative genes, to biological study in vitro and in vivo (animal models).. More recently, Ptácek led the team that characterized the first Mendelian ...
Sudden Death Genomics Laboratory of Michael J. Ackerman, M.D., Ph.D., at Mayo Clinic: Cardiac channelopathies, long QT syndrome, SIDS, cardiomyopathy.
Recent scientific discoveries have confirmed a pivotal role for the NaV 1.7 voltage-gated sodium channel in human familial gain-of-function and loss-of-function pain syndromes. NaV 1.7 is comprised of four hexameric transmembrane domains encoded by SCN9A, a gene preferentially expressed in dorsal root and sympathetic ganglion neurons. Gain-of-function lesions in SCN9A lead to the development of primary erythromelalgia (PEM). To date, fourteen PEM mutations have been identified which all map to the first three domains of NaV 1.7. I have identified four SCN9A mutations, two of which map to the fourth domain of NaV 1.7 and have used a combination of molecular biology and electrophysiology tools to investigate the biophysical properties of the mutated channels. The results provide insights into the function of NaV 1.7 and are useful in a wider clinical context for offering a confident genetic diagnosis of pain channelopathies. Recessive loss-of-function mutations in SCN9A cause congenital ...
The action potential is fundamental to information processing in the brain. Neurons fire action potentials in response to a variety of inputs and action potentials exist in many different shapes, sizes and frequencies. In this course we will begin with a study of ion channels, the membrane bound biochemical switches that give the action potential its shape. Then we will explore the numerous factors that influence the nature of an individual action potential: neuronal morphology, ion channel composition, and intracellular signaling cascades. We will conclude by considering how circuits of diverse neuronal phenotypes integrate synaptic signals, which give rise to sophisticated information processing, learning and memory, and psychiatric disease. Student projects will explore how ion channel abnormalities, so-called "channelopathies," influence cognition and behavior.. ...
Neurologists have known for a long time that essential tremor has a strong genetic element. The diagnosis always feels more certain when there is another family member with tremor. The exact nature of this genetic link is however uncertain. Into this void comes a research paper suggesting that people with essential tremor may have abnormal cellular channels. Channels are proteins in the cell wall that let electrolytes like sodium and potassium in and out, and channelopathies are diseases that affect these channels. The authors of this paper studied a large essential tremor family who also suffer with epilepsy, a typical channel disorder. And the genetic tests they carried out revealed an abnormality in the SCN4A sodium channel. Correlation or causation? The mystery only deepens, I think.. ...
Available Videos: Recommendations Sudden Arrhythmia Death Syndromes and Vaccinations Competitive Sport Athletes and Genetic Heart Diseases Return to Play Considerations for Athletes with Genetic Heart Diseases Treatments QT Preventative Measures Cardiac Channelopathies: Who Needs an ICD? The Necessity of an AED Avoiding ICD Implantation in Primary Electrical Diseases Miscellaneous Welcome to Mayo Clinic from Dr. Michael Ackerman Getting to Know Dr. Michael Ackerman Genetics and Genetic Testing 101: Pedigrees, Penetrance and Purgatory Sudden Unexplained Death in Childhood Awareness Month - March 2019 SADS Warning Signs and National Heart Month - February 2019 Sudden Arrhythmia Death Syndromes and Vaccinations Dr. Michael Ackerman, a genetic cardiologist from Mayo Clinic, discusses concerns about vaccinations and flu shots for patients with genetic heart rhythm conditions like Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular
Large, prospective double-blinded trials to assess the safety and efficacy of ICD therapy in adults have proven the value of ICDs in a variety of disease substrates, including post-myocardial infarction, ischemia, and cardiomyopathies (15-18). Implant indications and guidelines have been developed to appropriately determine who is a good ICD candidate for both primary and secondary prevention (19,20). The sheer volume of adult patients in these studies dwarfs the pediatric ICD experience, where sudden cardiac death is fortunately relatively uncommon (except perhaps in untreated channelopathies and malignant myocarditis/cardiomyopathies). However, the rarity of diseases and cardiac events also makes determining the appropriate indications for therapy diagnostically challenging. The impact of receiving an ICD may be more substantial in a young patient, who may live for decades after initial device implantation and would be subject to multiple procedures for generator replacements and lead ...
Human induced pluripotent stem cells (iPSCs) represent a powerful human model to study cardiac disease in vitro, notably channelopathies and sarcomeric cardiomyopathies. Different protocols for cardiac differentiation of iPSCs have been proposed either based on embroid body formation (3D) or, more recently, on monolayer culture (2D). We performed a direct comparison of the characteristics of the derived cardiomyocytes (iPSC-CMs) on day 27 ± 2 of differentiation between 3D and 2D differentiation protocols with two different Wnt-inhibitors were compared: IWR1 (inhibitor of Wnt response) or IWP2 (inhibitor of Wnt production). We firstly found that the level of Troponin T (TNNT2) expression measured by FACS was significantly higher for both 2D protocols as compared to the 3D protocol. In the three methods, iPSC-CM show sarcomeric structures. However, iPSC-CM generated in 2D protocols constantly displayed larger sarcomere lengths as compared to the 3D protocol. In addition, mRNA and protein analyses reveal
I come back after a longer time...I am stil taking cortisone and from time to time I am fine....though there is ongoing muscle decline (arms, shoulders, neck...), symmetrically, so neuro is not sure..Yes it looks strange... Small fiber neuropathie is confirmed. Now it is getting a bit colder here and today I feel like got stuck in my own body...They still get my tongue a close look during check up. My clinical is quite normal. Lower reflexes are low, upper brisk, but symmetrical. No stomach reflexes but symmetrical...Now I am checked for channelopathy, but I think this is misleading. Small Fiber is not a comorbidity as far as I know ...
The focus of the Periodic Paralysis, Myotonia, and Episodic Ataxia Clinic is to provide clinical services for patients with these neurologic channelopathies. Dr. Robert C Griggs, Professor and Chair of the Department of Neurology, has had a career-long interest in clinical care and research of channelopathies. Neurologic channelopathies are caused by a genetic mutation that affects the function of ion channels in cell membranes.. Referral Information ...
Martial arts expert, Mitch Gooch, teaches people how to do Kung Fu and martial arts all from his wheelchair. The 36-year-old British man suffers from a rare illness that causes his whole body to feel like "blocks of ice" and has left him disabled.. "I can only describe it as being frozen. You know you can move but you are just unable to. It literally feels like parts of your body are blocks of ice," Gooch told the Daily Mail.. When Gooch was 24, he woke up one morning fully paralyzed and could not move for a week. The hospital staff previously diagnosed his condition as growing pains before it was revealed he suffered from a rare hereditary illness- Andersen-Tawil syndrome- a type of long QT syndrome.. Andersen-Tawil syndrome is a rare condition and a rare form of periodic paralysis that affects approximately 100 people worldwide. According to the Mayo Clinic, this syndrome can cause episodes of muscle weakness, changes in heart rhythm, and developmental abnormalities. Patients commonly develop ...
Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.. ...
Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is delayed or slowed. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.. ...
Introduction: Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac arrhythmias and developmental abnormalities but is often difficult to diagnose clinically. This study was undertaken to determine whether sarcolemmal dysfunction could be identified with muscle velocity recovery cycles (MVRCs). Methods: Eleven genetically confirmed ATS patients and 20 normal controls were studied. MVRCs were recorded with 1, 2, and 5 conditioning stimuli and with single conditioning stimuli during intermittent repetitive stimulation at 20 Hz, in addition to the long exercise test. Results: ATS patients had longer relative refractory periods (P , 0.0001) and less early supernormality, consistent with membrane depolarization. Patients had reduced enhancement of late supernormality with 5 conditioning stimuli (P , 0.0001), and less latency reduction during repetitive stimulation (P , 0.001). Patients were separated completely from controls by combining MVRC and ...
1. Ventricular fibrillation is not only caused by acute coronary syndrome. There are many other etiologies, including scarring from previous MI, medications, drugs, LVH, and channelopathies. We found that 38% of out of hospital ventricular fibrillation was due to STEMI. The remainder were due to other etiologies, (including NonSTEMI ACS). But approximately 50% were due to non-ACS etiologies ...
Neuromuscular medicine is subspecialty of neurology and physiatry that focuses the diagnosis and treatment of neuromuscular diseases. The field encompasses issues related to both diagnosis and medical treatment of these conditions, as well as relevant rehabilitation interventions to optimize the quality of life of individuals with these conditions.[1] This field encompasses disorders that impact both adults and children. Neuromuscular disease can be caused by autoimmune disorders,[2] genetic/hereditary disorders[3] such as channelopathies,[4] or neurodegenerative diseases.[5] Because they frequently have no cure, the focus is managing the condition to provide improvements in the patients quality.[1] Rehabilitation robotics is a new frontier for neurological rehabilitation treatments. ...
Xina, as it was highlighted many times by the most educated specialists in MND, twitching itself is a nonspecific symptom. Moreover, twitching could be caused by several DIFFERENT underlying reasons. It could be due to decreased firing threshold, as it probbaly happens with hyperthyroid people, or due to disfunction of potassium channes in channelopathy, or it could be on the nerve level, like it happens in neuritis/MS (which also involves local neuritis) or in other MND, or in physical neural trauma. In the case of neuritis, twitchihg occurs, as far as I understand, both in cases of denervation and re-innervation, so it is really hard to say which process is predominant right now. When your inflamed nerves are healing, they may form same pattern on EMG like damaged ones (becasuse they ARE damaged). The difference is wheter you can regain strength or not AND whether the process would be confined in one nerve group or spreading to others ...
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5. Genetic testing may be useful for patients with suspected Brugada syndrome (but not isolated type 2 or 3 pattern without signs/symptoms), short QT syndrome, arrhythmogenic cardiomyopathy meeting task force diagnostic criteria, dilated cardiomyopathy with a familial pattern (regardless of electrocardiogram findings), left ventricular noncompaction, and restrictive cardiomyopathy. The yield of testing in these circumstances tends to be less than the above conditions ...
Three metabolic disorders caused by channel mutations have been described: a renal Fanconi syndrome with mutations in NaPi-IIa causing impaired renal phosphate reabsorption (Magen et al., 2010, N Engl J Med 362:1102-09). ATP7A, encoding a copper transporter causing Menkes disease and occipital horn syndrome, can also be the cause of X-Linked Distal Hereditary Motor Neuropathy (Kennerson et al., 2010, Am J Hum Genet 86:343-52). Also, a susceptibility to thyrotoxic hypokaliemic paralysis can be caused by mutations in potassium channel Kir2.6 (Ryan et al., 2010, Cell 140:88-98).. Posted by Philippe Campeau, MD. ...
Here, in this large molecular autopsy series of medical examiner/coroner-referred cases of autopsy-negative SUD, we provide molecular evidence implicating a cardiac channelopathy as the pathogenic basis for 35% of SUD cases, including 15% with CPVT1 and now 20% with LQTS susceptibility mutations. In addition, consistent with the known natural history of both CPVT and LQTS, there was a striking gender predilection for the elucidated channelopathies, with CPVT1-associated mutations found predominantly among male decedents, whereas LQTS-associated mutations predominantly involved female decedents (30,31).. Certainly, this study is not a population-based study of SUD. The reasons prompting the request for postmortem mutational analysis for these SUD cases from the 42 medical examiner offices represented herein and not others is unknown. The total number of autopsies performed or autopsies labeled as SUD by the 42 medical examiner offices over this study period is unknown. Nevertheless, the point ...
Doctor Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. As Director of Mayos Long QT Syndrome/Genetic Heart Rhythm Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory, Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research as stated by Dr. Charles H. Mayo: to heal the sick and to advance the science. He has published over 400 articles and chapters across the continuum of basic, translational, and clinical research focusing on the cardiac channelopathies, hypertrophic cardiomyopathy, and sudden cardiac death in the young. Dr. Ackerman received his MD and PhD from Mayo Medical School and Mayo Graduate School and residency and fellowship training in Pediatric and Pediatric Cardiology in Mayo Clinics Graduate School of Medicine. Dr. Ackerman is also the president of the Sudden Arrhythmia Death Syndromes ...
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Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias ...
A blog about Periodic Paralysis a rare, hereditary, debilitating, difficult to diagnose, mineral metabolic disorder and ion channelopathy.
Long QT Syndrome Type 3 (LQT3) is an inherited channelopathy associated with a high-risk of life-threating cardiac events across the entire age spectrum from in...
Results Thirty (9.8%) patients had an abnormality during ETT, details of which are summarised in Abstract 50 figure 1. All ETTs with abnormal QT prolongation and dynamic Brugada pattern were associated with diagnoses of long QT syndrome and Brugada syndrome respectively. An example of dynamic Brugada phenotype is given in Abstract 50 figure 2. Ventricular ectopy was seen in 15 patients, of whom 5 demonstrated phenotypic cardiomyopathy or channelopathy on further investigations. No patients with significant ST depression had evidence of coronary abnormalities on imaging. No hypotensive BP response was seen, but exertional hypertension was associated with systemic hypertension. ...
More than 60 mutations in the KCNJ2 gene have been found to cause Andersen-Tawil syndrome, a disorder characterized by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein building block (amino acid) in the KCNJ2 protein.. Mutations in the KCNJ2 gene lead to the production of a nonfunctional potassium channel. Some mutations change the shape of the channel so it cannot transport potassium ions, while other mutations prevent the channels from being inserted correctly into the cell membrane. Many KCNJ2 mutations prevent PIP2 from effectively binding to and activating potassium channels. If the KCNJ2 protein is unable to bind to PIP2, the channels remain closed and potassium ions are unable to flow across the cell membrane. Researchers believe that problems with PIP2 binding are a major cause of Andersen-Tawil syndrome.. A loss of ...
Andersen-Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern and predisposes patients to cardiac arrhythmias. Jervell and Lange-Nielsen syndrome is a similar disorder which is also associated with sensorineural hearing loss.[citation needed] It was first described by Ellen Damgaard Andersen. A triad of hypokalemic periodic paralysis, potentially fatal cardiac ventricular ectopy and characteristic physical features is known as Anderson-Tawil Syndrome. It affects the heart, symptoms are a disruption in the rhythm of the hearts lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen-Tawil syndrome, these typically affect the head, face, and limbs. These features often include an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers ...
Dr. Ron Milo recommends the Autoimmunity Congress to Neurologists.. ​The central nervous system (CNS) is no longer considered to be an immune privileged site. All arms of the immune system may interact with all levels and tissues of the nervous systems in health and disease to generate Immune mediated disorders that span the whole neuroaxis, including the CNS, peripheral nerves, neuromuscular junction and muscles. Indeed, most of the true autoimmune diseases fulfilling Witebskys criteria involve the nervous system, especially the neuromuscular junction (e.g. myasthenia gravis, Lambert-Eaton myasthenic syndrome), and several encephalopathies, channelopathies, epilepsies, paraneoplastic syndromes and other conditions are emerging as autoimmune neurological disorders.. In the upcoming Congress on Autoimmunity in Leipzig, neurologists will have the opportunity to learn about some of the most recent advances made in this exiting field of neuroimmunology, to get insight into new mechanisms, ...
Two point linkage analysis yielded a maximum lod score (Zmax) of 2.11 at θ = 0 for both markers D2S2370 and D2S2330. Critical recombination events occurring in individual II-3 and III-1 indicate that marker D2S2345 defines the telomeric end. This marker and marker D2S2370, which is reported by the literature7 as the centromeric boundary, limit the responsible gene to a region of 5.98 cM (fig 2). Individual III-5 (3 years old) carried the risk haplotype but was clinically unaffected, possibly due to the late onset of the disease, because all of the affected individuals in this family first showed symptoms at 7-15 years old, and we have not found patients less than 5 years old in the literature.3,8. This genomic interval contains a cluster of sodium channel genes including SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A. Primary erythermalgia can be evoked by various stimulations, comparable to sodium channel diseases such as severe myoclonic epilepsy in infancy (MIM 607208), which is caused by a SCN1A ...
The expressed phenotype of this patient is a variable combination of heart muscle disease and channelopathy. In 1990, autopsy studies reported that sudden cardiac death patients with a family history of HCM may demonstrate widespread interstitial fibrosis with myocardial disarray in the absence of ventricular hypertrophy (1,2). The increased availability of genetic analysis in HCM patients documented the fact that a subset of individuals in the family of classical HCM patients carry the causative gene mutation in the absence of classical ventricular hypertrophy (3). This subset of individuals was categorized as a genotype positive/phenotype negative (G+P−) or a nonhypertrophic hypertrophic cardiomyopathy phenotype. Detection of myocardial crypts in cardiac magnetic resonance imaging has been suggested as a marker of G+P− HCM (4); however, this is not specific for HCM and can be observed in patients with left ventricular hypertrophy or ischemic heart disease (5). Although the natural history ...
The discovery of genetic variants that substantially alter an individuals perception of pain has led to a step-change in our understanding of molecular events underlying the detection and transmission of noxious stimuli by the peripheral nervous system. For example, the voltage-gated sodium ion channel Na v 1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Na v 1.7, result in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and smal l-fibre neuropathy. Heterozygous mutations in TRPA1, which encodes the transient receptor potential cation channel, can cause familial episodic pain syndromes, and variants of genes coding for the voltage-gated sodium channels Na v 1.8 (SCN10A) and Na v 1.9 (SCN11A) lead to small-fibre neuropathy and congenital insensitivity to pain, respectively. Furthermore, other genetic
Researchers at the National Hospital, Queen Square, London, UK, conducted automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 patients with hypokalemic periodic paralysis (HypoPP). CACNA1S mutations were identified in 64 cases, and SCN4A or other CACNA1S mutations in 10, including 4 with new mutations. All mutations neutralized arginine residues in S4 segments. The patients with new mutations had the typical HypoPP phenotype: onset of attacks of muscle paralysis in first or second decade, at night or early morning, and low serum potassium. The findings were consistent with the gating pore cation leak hypothesis of HypoPP, and arginine mutations in S4 segments are involved in 90% cases. [1]. COMMENT. In an editorial, Cannon SC proposes that the remaining 10% of HypoPP families with no identified mutation will also prove to be channelopathies, from a new class of molecular defect or different channel. [2]. ...
Sudden infant death syndrome (SIDS) is a cause assigned to infant deaths that cannot be explained after a thorough case investigation, including a scene investigation, autopsy, and review of the clinical history.1 Sudden unexpected infant death (SUID), also known as sudden unexpected death in infancy, is a term used to describe any sudden and unexpected death, whether explained or unexplained (including SIDS), that occurs during infancy. After case investigation, SUIDs can be attributed to suffocation, asphyxia, entrapment, infection, ingestions, metabolic diseases, arrhythmia-associated cardiac channelopathies, and trauma (accidental or nonaccidental). The distinction between SIDS and other SUIDs, particularly those that occur during an observed or unobserved sleep period (sleep-related infant deaths), such as accidental suffocation, is challenging and cannot be determined by autopsy alone. Scene investigation and review of the clinical history are also required. Many of the modifiable and ...
Sudden infant death syndrome (SIDS) is a cause assigned to infant deaths that cannot be explained after a thorough case investigation, including a scene investigation, autopsy, and review of the clinical history.1 Sudden unexpected infant death (SUID), also known as sudden unexpected death in infancy, is a term used to describe any sudden and unexpected death, whether explained or unexplained (including SIDS), that occurs during infancy. After case investigation, SUIDs can be attributed to suffocation, asphyxia, entrapment, infection, ingestions, metabolic diseases, arrhythmia-associated cardiac channelopathies, and trauma (accidental or nonaccidental). The distinction between SIDS and other SUIDs, particularly those that occur during an observed or unobserved sleep period (sleep-related infant deaths), such as accidental suffocation, is challenging and cannot be determined by autopsy alone. Scene investigation and review of the clinical history are also required. Many of the modifiable and ...
ATS is an ion channel disorder that causes episodes of muscle weakness and potentially life-threatening heart arrhythmias. The majority of ATS cases are caused by a mutation in the KCNJ2 gene, which is linked to potassium channels in the heart, brain, and skeletal muscle; other cases are presumed to be caused by an as yet undetermined gene lesion. To date, the treatment for ATS has been largely anecdotal, and no treatments have been formally assessed in a controlled clinical trial. This study will determine whether potassium supplements and/or acetazolamide, which is a diuretic medication, affect the duration of muscle weakness and heart rhythm abnormalities in people with ATS.. Participation in this study will last about 11 months. Participants will first attend a 3-day inpatient visit that will include a medical history, physical examination, blood work, heart rhythm testing by an electrocardiogram (ECG) and Holter monitor, strength testing, a health questionnaire, and daily potassium ...
3 Studies found for: long QT syndrome OR Jervell and Lange-Nielsen syndrome OR Romano-Ward syndrome OR Andersen-Tawil , Recruiting, Not yet recruiting, Available Studies , NIH, U.S. Fed ...
Our results identify a water channel protein as the first defined autoantigen pertinent to an inflammatory demyelinating disorder of the human CNS. AQP4 is an integral protein of astrocytic plasma membranes (15-18), and is highly concentrated in foot process domains facing microvessels where it interacts with dystrophin-associated proteins (10, 17). The AQP4 channel is mercurial-insensitive, and is the predominant water channel in the CNS. It has a pathophysiologic role in brain edema formation following water intoxication (14, 19, 20) or focal cerebral ischemia (21). Brain edema occurring in oncologic contexts is attributed to the up-regulation of AQP4 in high-grade astrocytomas and in reactive astrocytes related to cerebral adenocarcinoma metastases (21, 22).. The present study is the first to implicate AQP4 in the pathogenesis of any autoimmune disorder. NMO may represent the first example of a novel class of autoimmune channelopathies. Unlike MS, the cerebrospinal fluid in patients who have ...
Myasthenia gravis (MG) and the Lambert-Eaton myasthenic syndrome (LEMS) are the prototypical autoimmune channelopathies of the peripheral nervous system. The predominant neuromuscular junction antigenic targets are either postsynaptic (MG; nicotinic acetylcholine receptor (AChR)) or presynaptic (LEMS; voltage-gated calcium channels (VGCCs)). Over the last 35 years the development of active immunization, passive transfer models, and use of transgenic animals has greatly enhanced our understanding of the biology of these disorders. The search for other antibodies in previously seronegative MG cases has led to the recognition of antibodies against clustered AChRs, muscle-specific kinase (MuSK) and low density lipoprotein receptor-related protein 4 (Lrp4). The pathogenic mechanisms that underlie these newer serological subclasses of MG are not yet fully understood, but are likely to be different from AChR antibody-mediated disease. While many still would consider MG an antibody-mediated disorder, it is
We report on the case of a 10-year-old Iraqi Kurdish boy who developed recurrent short-lived attacks of severe instability of stance and gait, vertigo, nausea, and vomiting. Examination revealed peri-oral myokymia. Histories of fever, head trauma, seizures, migraine, or illicit drug abuse were not obtained. Needle electromyography revealed myokymic discharges. KCNA1 missense G1210A genetic mutation was found. The boy s parents and grandparents did not harbour this mutation. The patient had sporadic episodic ataxia type 1 and acetazolamide was prescribed.. Key words: Episodic ataxia, KCNA1, myokymia, potassium channelopathy, missense mutation ...
This webinar will provide an overview of novel biomarker discoveries and advances being made in the study of autoimmune gliopathies. Neuromyelitis optica (NMO) spectrum disorders, considered under the umbrella term, "autoimmune aquaporin-4 channelopathy," represent an evolving spectrum of central nervous system (CNS) inflammatory autoimmune demyelinating diseases for which a specific antigen has been identified-the astrocytic water channel protein called aquaporin-4 (AQP4). The discovery of AQP4-IgG represents a significant shift from emphasis on the oligodendrocyte and myelin to the astrocyte, and it was the first proven autoimmune gliopathy biomarker.. Continued progress in our understanding of the immunobiology of AQP4 autoimmunity necessitates continuing revision of the clinical diagnostic criteria for NMO spectrum disorders. As the clinical spectrum broadens, the importance of highly specific assays that detect pathogenic AQP4-IgG-targeting extracellular epitopes of AQP4 cannot be ...
Channelopathies. Burlington: Elsevier. pp. 44-46. ISBN 9780080528854. Bryant, S. H. (1979). Myotonia In The Goat. University of ... Rüdel, R (2000). "Muscle chloride channelopathies: myotonia congenita". In Lehmann-Horn, Frank; Jurkat-Rott, Karin. ...
Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These ... Channelopathies affecting synaptic function are a type of synaptopathy. The types in the following table are commonly accepted ... Kim, JB (2014). "channelopathies". Korean Journal of Pediatrics. 57 (1): 1-18. doi:10.3345/kjp.2014.57.1.1. PMC 3935107 . PMID ... Mulley JC, Scheffer IE, Petrou S, Berkovic SF (April 2003). "Channelopathies as a genetic cause of epilepsy". Current Opinion ...
Planells-Cases, Rosa; Jentsch, Thomas J. (2009-03-01). "Chloride channelopathies". Biochimica et Biophysica Acta (BBA) - ...
Kullmann, Dimitri M. (2010-01-01). "Neurological channelopathies". Annual Review of Neuroscience. 33: 151-172. doi:10.1146/ ... neurological channelopathies and Synaptopathies, gene therapy for epilepsy, and mechanisms of neural oscillations. Kullmann was ...
Feske, S. (2010). "CRAC channelopathies". Pflügers Archiv - European Journal of Physiology. 460 (2): 417-435. doi:10.1007/ ...
Neuromuscular disease can be caused by autoimmune disorders,[2] genetic/hereditary disorders[3] such as channelopathies,[4] or ... "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1-18. doi:10.3345/kjp.2014.57.1.1. ISSN 1738-1061. PMC 3935107. PMID ...
The concept of channelopathies and the link with specific ion channel mutations emerged at the end of the 20th century. Kung AW ... TPP is regarded as a model for related conditions, known as "channelopathies", which have been linked with mutations in ion ... Ryan DP, Ptácek LJ (October 2010). "Episodic neurological channelopathies". Neuron. 68 (2): 282-92. doi:10.1016/j.neuron. ...
Vicart S, Sternberg D, Fontaine B, Meola G (2005). "Human skeletal muscle sodium channelopathies". Neurol Sci. 26 (4): 194-202 ... Cannon S (2006). "Pathomechanisms in channelopathies of skeletal muscle and brain". Annu Rev Neurosci. 29: 387-415. doi:10.1146 ...
Behere, SP; Weindling, SN (2014). "Inherited arrhythmias: The cardiac channelopathies". Annals of Pediatric Cardiology. 8 (3): ... of SIDS cases are believed to be due to channelopathies, which are inherited defects in the ion channels which play an ...
Waxman SG (July 2013). "Painful Na-channelopathies: an expanding universe". Trends in Molecular Medicine. 19 (7): 406-9. doi: ...
Abraham MR, Jahangir A, Alekseev AE, Terzic A (November 1999). "Channelopathies of inwardly rectifying potassium channels". ...
Genetic and autoimmune disorders of ion channels and their modifiers are known as channelopathies. See Category:Channelopathies ...
... to channelopathies (sodium channels, "SCN3A").[41] ...
"Channelopathies of inwardly rectifying potassium channels". FASEB Journal. 13 (14): 1901-10. doi:10.1096/fasebj.13.14.1901 ...
Vincent A (2008). "Autoimmune channelopathies: John Newsom-Davis's work and legacy. A summary of the Newsom-Davis Memorial ...
Mutation studies allow experimenters to study genetically inherited channelopathies. A channelopathy is any disease that ...
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". ...
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". J ...
Platt, D; Griggs RC (April 2012). "Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies". ...
Celesia, G. G. (2001) Disorders of Membrane Channels or Channelopathies. Clinical Neurophysiology Jan, 112 (1), 2 - 18.[1]. ...
"Neurological channelopathies: new insights into disease mechanisms and ion channel function." The Journal of Physiology (2010 ...
Synaptopathies caused by ion channel mutations are also known as synaptic channelopathies. An example is episodic ataxia. ...
Interest in these "autopsy-negative" deaths has centered around the "ion channelopathies". These electrolyte channels are pores ... may comprise a larger part of the channelopathies than previously anticipated. Heritable connective tissue diseases are rare, ...
Behere, SP; Weindling, SN (2014). "Inherited arrhythmias: The cardiac channelopathies.". Annals of pediatric cardiology 8 (3): ...
... and some MS cases are reported to be Kir4.1 channelopathies (autoimmunity against the potassium channels) it is still possible ... "Neuromyelitis optica and the evolving spectrum of autoimmune aquaporin-4 channelopathies: a decade later". Annals of the New ...
Karen Suetterlin, Roope Männikkö, Michael G. Hanna, Muscle channelopathies, Current Opinion in Neurology, 2014, 27, 5, 583. ... Susan E. Tomlinson, James Howells, David Burke, In vivo assessment of neurological channelopathies: Application of peripheral ...
Library of Medicine OMIM entries on Anderson-Tawil syndrome Consortium for Clinical Investigation of Neurologic Channelopathies ...
Waxman, S. Channelopathies have many faces. Nature 472, 173-174 (2011) doi:10.1038/472173a ...
Channelopathies. Definition. Channelopathies are a group of disorders that are caused by dysfunction of ion channels. ... Neuroscience: Channelopathies have many faces A sodium channel known for its role in the perception of pain also seems to be ... Channelopathies converge on TRPV4 Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited ... Channelopathies can disrupt neuronal or muscle function, including heart function, and can affect the brain, resulting in ...
Painful and painless channelopathies.. Bennett DL1, Woods CG2.. Author information. 1. Nuffield Department of Clinical ...
We also recapitulate the role of Nav1.8 for peripheral pain processing and of additional sodium channelopathies which have been ...
During the past 15 years, ion channels have been implicated in diseases that have come to be known as the channelopathies. Over ...
Downloading a figure as powerpoint requires a browser with javascript support. Enable javascript and try again For help please contact [email protected] ...
Bi, M.M.; Hong, S.; Zhou, H.Y.; Wang, H.W.; Wang, L.N.; Zheng, Y.J. Chloride Channelopathies of ClC-2. Int. J. Mol. Sci. 2014, ... Keywords: ClCs; ClC-2; ClC-2 channels; ClC-2 chloride channelopathies ClCs; ClC-2; ClC-2 channels; ClC-2 chloride ... Chloride Channelopathies of ClC-2. International Journal of Molecular Sciences. 2014; 15(1):218-249. ... "Chloride Channelopathies of ClC-2." Int. J. Mol. Sci. 15, no. 1: 218-249. ...
Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome. Ronald Wilders Department of Anatomy, Embryology and ... "cardiac ion channelopathies") and are not detectable during a standard postmortem examination, may create the vulnerable infant ...
Muscle channelopathies are caused by mutations in ion channel genes, by antibodies directed against ion channel proteins, or by ...
Pharmacology of Ion Channels and Channelopathies Ion channels are specialized membrane proteins responsible for the ions fluxes ... no surprise that defects in ion channels function may cause diverse and severe diseases collectively known as channelopathies, ... expression of otherwise functionally unaltered ion channels have been recognized and named transcriptional channelopathies. To ... Some other channelopathies may result from defective regulations of channel activity due to mutations occurring in the voltage- ...
Tim Shafer began his presentation by defining what channelopathies are and presenting several examples of channelopathies. ... Channelopathies: Summary of the hot topic keynotes session. Contact. National Health and Environmental Effects Research ... Channelopathies are mutations that alter the function of ion channels such that they result in clinically-definable syndromes ... Channelopathies: Summary of the hot topic keynotes session. NEUROTOXICOLOGY. Intox Press, Inc, Little Rock, AR, 32(5):661-5, ( ...
Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases. William A. Catterall, Sulayman Dib-Hajj, ... Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases. William A. Catterall, Sulayman Dib-Hajj, ... Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases. William A. Catterall, Sulayman Dib-Hajj, ... Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases Message Subject (Your Name) has forwarded ...
Channelopathies explanation free. What is Channelopathies? Meaning of Channelopathies medical term. What does Channelopathies ... Looking for online definition of Channelopathies in the Medical Dictionary? ... redirected from Channelopathies) channelopathy. A popular term for a heterogeneous group of conditions caused by structural ( ... Like other channelopathies, arrhythmias and symptoms typically occur at times of rest or sleep when vagal activity predominates ...
The aim of this study was to evaluate the benefits-risks balance of E3G consumption on the setting of cardiac channelopathies. ... H. Abriel and E. V. Zaklyazminskaya, "Cardiac channelopathies: genetic and molecular mechanisms," Gene, vol. 517, no. 1, pp. 1- ... These results suggest that E3G may have a beneficial effect in the setting of cardiac sodium channelopathies displaying a ... In Silico Evaluation of the Potential Antiarrhythmic Effect of Epigallocatechin-3-Gallate on Cardiac Channelopathies. Maroua ...
Rhythm Association have prepared HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies ... The statement is directed to all health care professionals who are involved with genetic testing for channelopathies and ... 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies ... Rhythm Association have prepared HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies ...
Conclusion We have analysed the largest series of patients with skeletal muscle channelopathies reported so far, and documented ... Objective To obtain prevalence data on skeletal muscle channelopathies and to evaluate the relative frequency of common ...
Channelopathies most often result from a loss of channel function. It would be an attractive approach to activate channels to ... Activators of Cation Channels: Potential in Treatment of Channelopathies Message Subject (Your Name) has forwarded a page to ... Lawson K and Dunne MJ (2001) Peripheral channelopathies as targets for potassium channel openers. Expert Opin Investig Drugs 10 ... In a variety of channelopathies, ion channel function is reduced, and activators of cation channels are promising candidates to ...
... experimentally-driven computational study of response to drugs and channelopathies ... experimentally-driven computational study of response to drugs and channelopathies ...
Novel potential treatments for neuronal channelopathies, Neuropharmacology" on DeepDyve, the largest online rental service for ... Channelopathies can arise from a wide array of gene mutations; however they usually result in periods of aberrant network ... Channelopathies can arise from a wide array of gene mutations; however they usually result in periods of aberrant network ... Gene therapy and editing: Novel potential treatments for neuronal channelopathies Wykes, R.C.; Lignani, G. 2018-04-01 00:00:00 ...
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Oct 01, 2012 ... Channelopathies, Risk Assessment, Genetic Counseling, Pregnancy, Brugada Syndrome, False Positive Reactions, Sudden Infant ... on genetic testing for patients with cardiomyopathies and channelopathies. Ten points to remember are: 1. Genetic counseling is ... HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies ...
Table of Cardiac Ion Channelopathies. Long QT syndrome (LQTS) 1726272875 Short QT syndrome (SQTS) 171829 Catecholaminergic ... Cardiac ion channelopathies result from adverse alterations in genes that code for protein subunits of cardiac ion channels1. ... Individuals with ion channelopathies may benefit from prevention (avoidance of triggers and predisposing drugs) and treatment ( ... The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. Review. PubMed PMID ...
... enables an improved analysis of pathophysiological changes that occur in muscles of patients with muscular channelopathies. ... Resonance Imaging Allows for Improved Visualization of Intracellular Sodium Content Changes in Muscular Channelopathies. ... using 2 rare muscular channelopathies as model diseases. ...
04.06.2020 , Webinar: Decrypting variants of unknown significance in the channelopathies SyncroPatch 384i Webinar ...
  • As the brain may develop and wire abnormally as a consequence of an inherited or de novo channelopathy, the choice of optimal gene therapy or gene editing strategy will depend on the time of intervention (germline, neonatal or adult).This article is part of the Special Issue entitled 'Channelopathies. (deepdyve.com)
  • Channelopathies can disrupt neuronal or muscle function, including heart function, and can affect the brain, resulting in seizures. (nature.com)
  • Therefore gene therapy strategies based on up or downregulation of genes that modulate neuronal excitability may be effective therapy for a wide range of neuronal channelopathies. (deepdyve.com)
  • fMCG has been used to diagnose various fetal tachycardias, bradycardias, and channelopathies , such as long QT syndrome. (thefreedictionary.com)
  • 7) Less common causes include aortic rupture in Marfan syndrome, myocarditis, valvular disease (aortic stenosis, mitral valve prolapse) and the ion channelopathies (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia), and blunt chest trauma causing malignant arrhythmia (commotio cordis). (thefreedictionary.com)
  • Syncope can be the first manifestation of cardiac channelopathies, namely Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). (springer.com)
  • This article provides an overview of cardiac channelopathies that nurses might encounter in an array of clinical and research settings, focusing on the clinically relevant features of long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. (cdc.gov)
  • This article reviews the main clinical aspects of 3 channelopathies: the long QT syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the Brugada syndrome. (cdc.gov)
  • Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (cdc.gov)
  • Hypertrophic Cardiomyopathy (HCM) Arrhythmogenic right ventricular dysplasia (ARVC) Dilated Cardiomyopathy (DCM) Restrictive cardiomyopathy (RCM) Myocarditis Coronary Artery Disease (CAD) Ion Channelopathies - Long QT syndrome (inc. (wikipedia.org)
  • Ventricular tachycardia can occur due to coronary heart disease, aortic stenosis, cardiomyopathy, electrolyte problems (e.g., low blood levels of magnesium or potassium), inherited channelopathies (e.g., long-QT syndrome), catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, or a heart attack. (wikipedia.org)
  • Nevertheless, the diagnosis should be considered in young patients with structurally normal hearts, especially if the history of syncope is typical for an arrhythmogenic cause, in the presence of characteristic echocardiogram (ECG) patterns, and if there is a family history of channelopathies or sudden cardiac death. (springer.com)
  • On the other hand, syncope plays an important role in the management of patients with diagnosed channelopathies, as they may indicate an increased risk for sudden cardiac death. (springer.com)
  • Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death. (cdc.gov)
  • Genetic screening is currently recommended in the guidelines for diagnosis and treatment of cardiac channelopathies, which are major contributors to sudden cardiac death in young people. (cdc.gov)
  • More recently, altered expression of otherwise functionally unaltered ion channels have been recognized and named transcriptional channelopathies. (frontiersin.org)
  • The "Hot Topic Keynotes: Channelopathies" session of the 26th International Neurotoxicology Conference brought together toxicologists studying interactions of environmental toxicants with ion channels, to review the state of the science of channelopathies and to discuss the potential for interactions between environmental exposures and channelopathies. (epa.gov)
  • In a variety of channelopathies, ion channel function is reduced, and activators of cation channels are promising candidates to regain channel function in acquired or inherited channelopathies. (aspetjournals.org)
  • Cardiac ion channelopathies result from adverse alterations in genes that code for protein subunits of cardiac ion channels 1 . (plos.org)
  • Neurologic channelopathies are caused by a genetic mutation that affects the function of ion channels in cell membranes. (fastercures.org)
  • Increasing knowledge on rare genetically determined channelopathies can contribute to the development of novel pharmaceuticals since ion channels are central players in the processing of pain. (springer.com)
  • In this Research Topic, we will assemble a series of reviews or original articles to provide the most updated platform of knowledge on channelopathies, at clinical, genetic and physiological levels. (frontiersin.org)
  • The study focuses the clinical and ECG presentation and management of children with channelopathies in Slovakia. (cdc.gov)
  • Both clinical presentation and genetic testing must be considered in the diagnostic and therapeutic process of channelopathies. (cdc.gov)
  • Like other channelopathies , arrhythmias and symptoms typically occur at times of rest or sleep when vagal activity predominates. (thefreedictionary.com)
  • In this chapter will review how dysregulation of ionic homeostasis can lead to arrhythmias with a particular emphasis on channelopathies. (springer.com)
  • Mitochondrial channelopathies in aging. (nih.gov)
  • Nearly every aspect of ClC-2 is discussed in the review: molecular features, biophysical characteristics, pharmacological properties, cellular function, regulation of expression and function, and channelopathies. (mdpi.com)
  • 100-102 Advances in the molecular medicine of K ATP channelopathies thus are poised to offer new perspectives in the diagnosis and therapy of individuals and populations. (elsevier.com)
  • The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. (cdc.gov)
  • Indeed, molecular screening of the major disease-causing genes in the deceased person is often the only way to achieve a post-mortem diagnosis in channelopathies, which may prove crucial for the identification and management of at risk family members. (cdc.gov)
  • Molecular biology of channelopathies: impact on diagnosis and treatment. (nih.gov)
  • 5 Indeed, cardiac K ATP channelopathies are emerging as a recognized disease entity underlying heart failure and arrhythmia. (elsevier.com)
  • Ion channelopathies and inherited arrhythmia]. (nih.gov)
  • This series of landmark discoveries identified mutant ion channel genes and laid the groundwork for the field now called the 'channelopathies. (ucsf.edu)
  • Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families. (cdc.gov)
  • To fully realize the potential of induced pluripotent stem cells in elucidating the mechanistic basis and complex pathophysiology of channelopathies, it is crucial to have a basic knowledge of cardiac myocyte electrophysiology. (ovid.com)
  • The combined application of the 23Na-TSC and the 23Na-IR sequence enables an improved analysis of pathophysiological changes that occur in muscles of patients with muscular channelopathies. (ovid.com)
  • The study of channelopathies is proving new insights into the epileptic encephalopathies, an important and potentially treatable cause of learning and behaviour problems in childhood. (mackeith.co.uk)
  • Channelopathies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Delay methods jargon haematuria channelopathies thought, viraemia. (rusf.ru)
  • It then explored the available evidence that individuals with channelopathies may or may not be more sensitive to effects of chemicals. (epa.gov)
  • Individuals with ion channelopathies may benefit from prevention (avoidance of triggers and predisposing drugs) and treatment (e.g., beta blocker therapy, implantable cardioverter-defibrillator (ICD) placement) modalities. (plos.org)