Channelopathies
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
Myotonia
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)
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
NAV1.4 Voltage-Gated Sodium Channel
Sodium Channels
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
Ion Channels
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
Arrhythmias, Cardiac
Malignant Hyperthermia
Mutation
Potassium Channels, Inwardly Rectifying
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
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.
Humic Substances
Organic matter in a state of advanced decay, after passing through the stages of COMPOST and PEAT and before becoming lignite (COAL). It is composed of a heterogenous mixture of compounds including phenolic radicals and acids that polymerize and are not easily separated nor analyzed. (E.A. Ghabbour & G. Davies, eds. Humic Substances, 2001).
Induced Pluripotent Stem Cells
Regenerative Medicine
Cardiomyopathies
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Myocytes, Cardiac
Chloride Channels
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.
Ligand-Gated Ion Channels
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
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.
Dictionaries as Topic
Voltage-Gated Sodium Channels
Sodium Channel Blockers
NAV1.6 Voltage-Gated Sodium Channel
NAV1.2 Voltage-Gated Sodium Channel
A voltage-gated sodium channel subtype that mediates the sodium ion permeability of excitable membranes. Defects in the SCN2A gene which codes for the alpha subunit of this sodium channel are associated with benign familial infantile seizures type 3, and early infantile epileptic encephalopathy type 11.
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
Defibrillators, Implantable
Practice 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.
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)
Channelopathies: Summary of the hot topic keynotes session | Science Inventory | US EPA
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies | Journal of Biomedical Science | Full Text
Ion Channels: from Physiology to Channelopathies | Frontiers Research Topic
Most recent papers with the keyword Sodium channelopathies | Read by QxMD
Advances in cardiac ATP-Sensitive K
<sup>+</sup> channelopathies from molecules to...
An X-linked Channelopathy w... - Researchers - ANU
Rescue of channelopathy induced anosmias - Jeremy McIntyre
IJMS | Free Full-Text | Chloride Channelopathies of ClC-2
Genetic neurological channelopathies: molecular genetics and clinical phenotypes | Journal of Neurology, Neurosurgery &...
CCLCM Student Blog: Some Cell Membrane Stuff
Understanding Molecular Basis of Cardiac Calcium Channelopathy - Loujin Song
Channelopathies | definition of Channelopathies by Medical dictionary
Acute Paraspinal Compartment Syndrome Related to Use of Proprietary Weight Loss Product, by a Patient with Sodium Channelopathy...
Disease Overviews | Genetic Heart Rhythm Diseases | Mayo Clinic Connect
American Universities and Colleges
Sodium channel β subunits: emerging targets in channelopathies
Surgical cardiac denervation therapy for treatment of congenital ion c by John P. Costello, Jennifer K. Wilson et al.
Prospective In Vitro Models of Channelopathies and Cardiomyopathies
Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants...
Long QT syndrome - a genetic cardiac channelopathy. - Radcliffe Department of Medicine
Short QT syndrome
IJMS | Free Full-Text | Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death
Channelopathy | The Egyptian Cardiac Rhythm Association
Channelopathy | The Egyptian Cardiac Rhythm Association
Defining a Novel Role for the E3 Ubiquitin Ligase Wwp1 in Cardiac Arrh by Wassim Antoine Basheer
Teaching
014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry
Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
Andersen-tawil syndrome - Overview: What is Andersen-Tawil Syndrome? | ThinkGenetic
PPT - Cardiomyopathies PowerPoint Presentation - ID:4231242
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document...
Louis Ptacek, MD | Biomedical Sciences Graduate Program
Are there genetic tests for families that have a family member with sudden death? - Kardia Guard
About the Lab - Sudden Death Genomics: Michael J. Ackerman - Mayo Clinic Research
British Library EThOS: Molecular mechanisms of pain
PSYC 3384 Neurophysiology (Spring/Fall: 3 )
What precisely is the driver for essential tremor? - The Neurology Lounge
Video Archive | Genetic Heart Rhythm Diseases | Mayo Clinic Connect
Results of a Multicenter Retrospective Implantable Cardioverter-Defibrillator Registry of Pediatric and Congenital Heart...
AboutBFS.com • View topic - clear atrophie of left lower arm
Periodic Paralysis, Myotonia, and Episodic Ataxia Clinic - Clinical Services - Neurology - University of Rochester Medical...
Martial Arts Expert Suffers From Andersen-Tawil Syndrome with Paralysis - Global Genes
Myotonia Information Page | National Institute of Neurological Disorders and Stroke
Myotonia - NeurologyColorado
Louis Ptacek, MD | Biomedical Sciences Graduate Program
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles - Tan - 2012 - Muscle & Nerve - Wiley...
Dr. Smiths ECG Blog: Cardiac arrest, defibrillated, diffuse ST depression and ST Elevation in aVR. Why?
Neuromuscular medicine - Wikipedia
Gold Drugstore: Side effects of drug cymbalta original suppliers!
AboutBFS.com • View topic - Twitching - healing or dying?
Migrena - Wikipedia
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome | Journal of Medical...
Fainting goat
Rüdel, R (2000). "Muscle chloride channelopathies: myotonia congenita". In Lehmann-Horn, Frank; Jurkat-Rott, Karin (eds.). ... Rüdel, R (2000). "Muscle chloride channelopathies: myotonia congenita". In Lehmann-Horn, Frank; Jurkat-Rott, Karin (eds.). ... Channelopathies. Burlington: Elsevier. pp. 44-46. ISBN 9780080528854. Breed data sheet: Myotonic / United States of America ( ... Channelopathies. Burlington: Elsevier. pp. 44-46. ISBN 9780080528854. "On the Sacred Disease", trans. Francis Adams, in ...
Neuromuscular medicine
Kim, June-Bum (January 2014). "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1-18. doi:10.3345/kjp.2014.57.1.1. ISSN ... Neuromuscular disease can be caused by autoimmune disorders, genetic or hereditary disorders such as channelopathies, or ...
Myotonia
Other channelopathies may cause it as well. It is also associated with Schwartz-Jampel syndrome. Neuromuscular medicine ... Kim, June-Bum (January 2014). "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1-18. doi:10.3345/kjp.2014.57.1.1. ISSN ... Myotonia is the defining symptom of many channelopathies such as myotonia congenita, paramyotonia congenita and myotonic ... Vicart, S.; Sternberg, D.; Fontaine, B.; Meola, G. (1 October 2005). "Human skeletal muscle sodium channelopathies". ...
Dimitri Kullmann
Kullmann, Dimitri M. (2010). "Neurological channelopathies". Annual Review of Neuroscience. 33: 151-172. doi:10.1146/annurev- ... neurological channelopathies and Synaptopathies, gene therapy for epilepsy, and mechanisms of neural oscillations. Kullman ...
Calcium release activated channel
Feske S (July 2010). "CRAC channelopathies". Pflügers Archiv. 460 (2): 417-35. doi:10.1007/s00424-009-0777-5. PMC 2885504. PMID ...
Thyrotoxic periodic paralysis
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. ...
Louis Ptáček
ChannelopathiesEdit. Ptáček began his research on episodic neurological diseases by cloning and identifying genes that were ...
Vejocalcin
Ryanodine receptor channelopathies. Biochem. Biophys. Res. Commun. 322:1280-1285. PMID 15336975 DOI: 10.1016/j.bbrc.2004.08.033 ... particularly for the treatment of RyR channelopathies. Xiao, Liang; Gurrola, Georgina B.; Zhang, Jing; Martin, Mario San; ...
Hyperkalemic periodic paralysis
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". J ... Cannon, Stephen C. (2018). "Sodium Channelopathies of Skeletal Muscle". Voltage-gated Sodium Channels: Structure, Function and ... Channelopathies. Handbook of Experimental Pharmacology. Springer International Publishing. 246: 309-330. doi:10.1007/164_2017_ ...
Sudden infant death syndrome
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 ...
Chloride channel
Planells-Cases, Rosa; Jentsch, Thomas J. (2009-03-01). "Chloride channelopathies". Biochimica et Biophysica Acta (BBA) - ...
Romano-Ward syndrome
Demirbilek H, Galcheva S, Vuralli D, Al-Khawaga S, Hussain K (May 2019). "Ion Transporters, Channelopathies, and Glucose ...
Gyrification
... to channelopathies (sodium channels, "SCN3A"). Patients with autism have overall higher levels of cortical gyrification, but ...
Irritable bowel syndrome
Beyder A, Farrugia G (October 2016). "Ion channelopathies in functional GI disorders". Am J Physiol Gastrointest Liver Physiol ... Channelopathy and muscular dystrophy: IBS and functional GI diseases are comorbidities of genetic channelopathies that cause ... Beyder A, Farrugia G (2016). "Ion channelopathies in functional GI disorders". American Journal of Physiology. Gastrointestinal ...
Fowler's syndrome
K, Jurkat-Rott; H, Lerche; N, Mitrovic; F, Lehmann-Horn (September 1999). "Teaching Course: Ion Channelopathies in Neurology". ...
Nav1.8
Waxman SG (July 2013). "Painful Na-channelopathies: an expanding universe". Trends in Molecular Medicine. 19 (7): 406-9. doi: ...
Inward-rectifier potassium channel
Abraham MR, Jahangir A, Alekseev AE, Terzic A (November 1999). "Channelopathies of inwardly rectifying potassium channels". ...
Ion channel
Genetic and autoimmune disorders of ion channels and their modifiers are known as channelopathies. See Category:Channelopathies ...
Catecholaminergic polymorphic ventricular tachycardia
Venetucci L, Denegri M, Napolitano C, Priori SG (October 2012). "Inherited calcium channelopathies in the pathophysiology of ... Obeyesekere MN, Antzelevitch C, Krahn AD (February 2015). "Management of ventricular arrhythmias in suspected channelopathies ...
Channelopathy
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 ... The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) ... CS1 maint: discouraged parameter (link) Mulley JC, Scheffer IE, Petrou S, Berkovic SF (April 2003). "Channelopathies as a ...
Anti-VGKC-complex encephalitis
Vincent A (2008). "Autoimmune channelopathies: John Newsom-Davis's work and legacy. A summary of the Newsom-Davis Memorial ...
FKBP1B
"Inherited calcium channelopathies in the pathophysiology of arrhythmias". Nature Reviews. Cardiology. 9 (10): 561-575. doi: ...
P-type calcium channel
Mutation studies allow experimenters to study genetically inherited channelopathies. A channelopathy is any disease that ...
Inward-rectifier potassium channel
"Channelopathies of inwardly rectifying potassium channels". FASEB Journal. 13 (14): 1901-10. doi:10.1096/fasebj.13.14.1901 ...
Nav1.4
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". ...
Hypokalemic periodic paralysis
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". J ...
Altitude sickness
Platt D, Griggs RC (April 2012). "Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies". ...
Channelopathies have many faces | Nature
Channelopathies - Latest research and news | Nature
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. - PubMed - NCBI
Sodium channelopathies and pain | SpringerLink
Human skeletal muscle sodium channelopathies | SpringerLink
Prospective In Vitro Models of Channelopathies and Cardiomyopathies
... Nanako Kawaguchi. ,1 Emiko Hayama. ,1 Yoshiyuki Furutani. ... Prospective In Vitro Models of Channelopathies and Cardiomyopathies,. Stem Cells International,. vol. 2012. ,. Article ID ... Channelopathies have been currently used as in vitro disease models because of the development of systematic current ... The diseases of channelopathies and cardiomyopathies are listed and summarized with experts evaluation, "is recommended" or " ...
JCI -
ATP-sensitive potassium channelopathies: focus on insulin secretion
Downloading a figure as powerpoint requires a browser with javascript support. Enable javascript and try again For help please contact [email protected] ...
IJMS | Free Full-Text | Chloride Channelopathies of ClC-2
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
JCI -
Muscle channelopathies and critical points
in functional and genetic studies
Ion Channels: from Physiology to Channelopathies | Frontiers Research Topic
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- ...
Channelopathies: Summary of the hot topic keynotes session | Science Inventory | US EPA
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, ( ...
Ca2+ channelopathies | HSTalks
Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases | Journal of Neuroscience
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 | definition of Channelopathies by Medical dictionary
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 ...
Sodium channel β subunits: emerging targets in channelopathies
Neurophysiology for muscle channelopathies : University College London Hospitals NHS Foundation Trust
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 ... 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 ...
Genetic neurological channelopathies: molecular genetics and clinical phenotypes | Journal of Neurology, Neurosurgery &...
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery
... Front Pharmacol. 2016 May 10;7:121. ... For most channelopathies the therapy is mainly empirical and symptomatic, often limited by lack of efficacy and tolerability ... Other channelopathies can exploit ion channel targeted drugs, such as marketed sodium channel blockers. Developing new and more ... To this aim, a major advancement in the pharmacotherapy of channelopathies has been the discovery that ion channel mutations ...
014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry
Activators of Cation Channels: Potential in Treatment of Channelopathies | Molecular Pharmacology
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 ...
CNS channelopathies 1 Flashcards by Tom Jones | Brainscape
Inter-neuronal variability in human nociceptor electrophysiology: experimentally-driven computational study of response to...
Altmetric - COVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective
Gene therapy and editing: Novel potential treatments for neuronal channelopathies, Neuropharmacology | 10.1016/j.neuropharm...
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 - American...
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 ...
Genetic testing for long QT syndrome and the category of cardiac ion channelopathies - PLOS Currents Evidence on Genomic Tests
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 ...
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The...
The cardiac channelopathies are a collection of primary, genetically mediated heart rhythm disorders (also referred to as the ... Presently, these channelopathies should be viewed as potentially lethal but highly treatable conditions. However, unlike the ... 2011) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this ... These cardiac channelopathies include long-QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), ...
3 Tesla Sodium Inversion Recovery Magnetic Resonance Imaging Allows for Improved Visualization of Intracellular Sodium Content...
... 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. ...
MutationsSkeletal muscle channelopathiesDiseasesDisordersSodiumNeuronalLong QT syndrClinicalSyndromesChannelsChannelopathyCardiomyopathies and channelopathiesPeriodic paralysisPainless channelopathiesPotassium channelopathiesNeurologic channelopathiesGenesArrhythmiasGenetic TestingMuscleMolecularDysfunctionParoxysmalPathophysiologyFamilialSymptomatic
Mutations12
- Muscle channelopathies are caused by mutations in ion channel genes, by antibodies directed against ion channel proteins, or by changes of cell homeostasis leading to aberrant splicing of ion channel RNA or to disturbances of modification and localization of channel proteins. (jci.org)
- Some other channelopathies may result from defective regulations of channel activity due to mutations occurring in the voltage-sensor module of voltage-gated channels or the extracellular or intracellular binding sites for ligands or proteins that modulate their properties. (frontiersin.org)
- 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). (epa.gov)
- While there are a number of possible phenotypes resulting from channel mutations, one feature shared by a number of channelopathies is that they cause periodic and discrete attacks, allowing the carrier of the mutation to function normally between attacks (Kullmann, 2010). (epa.gov)
- Due to the widespread tissue distribution of ion channels and their physiological functions, mutations in genes encoding ion channel subunits, or their interacting proteins, are responsible for inherited ion channelopathies. (nih.gov)
- The current review summarizes the therapeutic management of the principal ion channelopathies of central and peripheral nervous system, heart, kidney, bone, skeletal muscle and pancreas, resulting from mutations in calcium, sodium, potassium, and chloride ion channels. (nih.gov)
- To this aim, a major advancement in the pharmacotherapy of channelopathies has been the discovery that ion channel mutations lead to change in biophysics that can in turn specifically modify the sensitivity to drugs: this opens the way to a pharmacogenetics strategy, allowing the development of a personalized therapy with increased efficacy and reduced side effects. (nih.gov)
- Objective To obtain prevalence data on skeletal muscle channelopathies and to evaluate the relative frequency of common mutations. (bmj.com)
- Specific mutations in these ion channels can give rise to channelopathies such as malignant hyperthermia, central core disease (CCD) and stress-induced cardiac arrhythmia (catecholaminergic polymorphic ventricular tachycardia). (technologynetworks.com)
- Inherited mutations in SCN5A, the gene encoding the pore-forming alpha-subunit of the cardiac-type Na+ channel, result in a spectrum of disease entities termed Na+ channelopathies. (ox.ac.uk)
- Channelopathies are a group of inherited diseases caused by mutations in the genes coding for Na+, Cl- , K+ and Ca++ channel subunits. (anaesthetist.com)
- Indeed, modern molecular techniques have led to the successful identification of mutations in genes encoding both voltage-gated and ligand-gated ion channels in numerous human neuromuscular disorders, collectively termed channelopathies . (mhmedical.com)
Skeletal muscle channelopathies8
- Conclusion We have analysed the largest series of patients with skeletal muscle channelopathies reported so far, and documented for the first time their overall prevalence. (bmj.com)
- Skeletal muscle channelopathies are a group of rare episodic genetic disorders comprising the periodic paralyses and the non-dystrophic myotonias. (bmj.com)
- Skeletal muscle channelopathies comprise a group of rare genetic neuromuscular disorders caused by dysfunction of sarcolemmal ion channels that are critical for muscle membrane excitability. (bmj.com)
- Skeletal muscle channelopathies are divided into the periodic paralyses and the non-dystrophic myotonias, based on whether the predominant clinical symptom is muscle weakness or myotonia. (bmj.com)
- Skeletal muscle channelopathies include the periodic paralyses and the non-dystrophic myotonias. (bmj.com)
- Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. (cdc.gov)
- We also discuss four newly identified genes associated with skeletal muscle channelopathies. (cdc.gov)
- Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. (cdc.gov)
Diseases13
- During the past 15 years, ion channels have been implicated in diseases that have come to be known as the channelopathies. (springer.com)
- Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels ("cardiac ion channelopathies") and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. (hindawi.com)
- The Italian pre-participation screening program has been demonstrated to be helpful in order to rule out the presence of cardiac diseases like HCM, channelopathies and arrhythmic diseases, simply by adding an ECG to clinical examination. (thefreedictionary.com)
- 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. (hrsonline.org)
- As many channelopathies are paroxysmal in nature, optogenetic or chemogenetic approaches may be well suited to treat the symptoms of these diseases. (deepdyve.com)
- To implement different sodium (23Na)-magnetic resonance imaging (MRI) contrasts at 3 Tesla and to evaluate if a weighting toward intracellular sodium can be achieved, using 2 rare muscular channelopathies as model diseases. (ovid.com)
- Also, the underlying pathology and physiology of ion channel diseases are described associated with sudden infant death syndrome to provide a clinical perspective of cardiac channelopathies about sudden infant death syndrome. (eurekaselect.com)
- CINCH (Clinical Investigation of Neurologic Channelopathies) is a collaborative effort of doctors, patient organizations, and federal health agencies that want to learn more about these diseases so that they can ultimately offer better treatments to patients. (fastercures.org)
- One subject that was really captivating was the topic of neurological channelopathies, or diseases of the nervous system that result from an abnormality of ion channels in cells. (eyewire.org)
- [1] [3] This invoked a series of discoveries of mutant ion channel genes that constructed the framework for studying similar diseases, which Ptáček calls " channelopathies . (wikipedia.org)
- Following on last week's article reviewing the general approach to screening for inherited cardiac diseases, see here the disorder-specific approach to screening from detecting conduction and structural disorders through to arrhythmias and channelopathies. (escardio.org)
- One might therefore expect that diseases of ion channels or channelopathies would not be compatible with life. (bmj.com)
- Many of the neurological channelopathies recognised to date are rare forms of common diseases and potentially give us clues to disease mechanisms in common disorders such as epilepsy and migraine. (bmj.com)
Disorders12
- Channelopathies are a group of disorders that are caused by dysfunction of ion channels. (nature.com)
- We also recapitulate the role of Nav1.8 for peripheral pain processing and of additional sodium channelopathies which have been linked to disorders with pain as a significant component. (springer.com)
- ion channelopathies , rare disorders affecting the sodium, potassium and calcium channels present in the heart muscles responsible for regulation of electrical current in and out of cells, and Wolff-Parkinson-White, a very rare condition where sufferers have an additional electrical connection between the upper and lower chambers of the heart. (thefreedictionary.com)
- The cardiac channelopathies are a collection of primary, genetically mediated heart rhythm disorders (also referred to as the primary electrical disorders) that are generally associated with a structurally normal heart and a propensity for syncope, seizures, or sudden cardiac arrest precipitated by a channelopathy-mediated episode of nonsustained or sustained polymorphic ventricular tachycardia (torsade de pointes) or ventricular fibrillation. (onlinejacc.org)
- Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. (radcliffecardiology.com)
- Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. (radcliffecardiology.com)
- Genetic disorders that disrupt the function of these channels produce an array of Na(+) channelopathies resulting in neuronal impairment, chronic pain, neuromuscular pathologies, and cardiac arrhythmias. (readbyqxmd.com)
- The epilepsies are the most common serious neurological disorders and the last decade has taught us that they are largely a family of ion channelopathies. (mackeith.co.uk)
- Recent advances in human induced pluripotent stem cell technology have provided remarkable progress in comprehending the underlying mechanisms of ion channel disorders or channelopathies by modeling these complex arrhythmia syndromes in vitro in a dish. (ovid.com)
- He proposed that all the work in channelopathies of skeletal muscle would be model for episodic disorders of heart and brain. (ucsf.edu)
- Episodic disorders: channelopathies and beyond. (ucsf.edu)
- Understanding the phenotypic expression of these rare, monogenic channelopathies may shed light on similar mechanisms in the more common, likely polygenic and multifactorial, paroxysmal neurologic disorders, such as migraine and epilepsy. (mhmedical.com)
Sodium3
- marked first-degree AV block, second-degree or higher AV block and sick sinus syndrome without pacemaker), sodium channelopathies (e. (thefreedictionary.com)
- Other channelopathies can exploit ion channel targeted drugs, such as marketed sodium channel blockers. (nih.gov)
- This chapter outlines sodium channel models with local anesthetics, anticonvulsants, and antiarrhythmics, which are used to manage pain and treat sodium channelopathies. (readbyqxmd.com)
Neuronal2
- 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)
Long QT syndr4
- 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)
- These cardiac channelopathies include long-QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), early repolarization syndrome, short-QT syndrome, and potentially idiopathic ventricular fibrillation. (onlinejacc.org)
- 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)
Clinical3
- 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 first Heart Rhythm Society/European Heart Rhythm Association-sponsored guideline as to the clinical use of genetic testing for the cardiac channelopathies was published in 2011 (9) . (onlinejacc.org)
- This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. (barnesandnoble.com)
Syndromes3
- It has new content on atrial fibrillation, implantable defibrillators, indications for pacemaker implantation, anticoagulant therapy, long QT syndromes and other channelopathies , and recently-approved anti-arrhythmia drugs. (thefreedictionary.com)
- Autoimmune channelopathies in paraneoplastic neurological syndromes. (anainf.fr)
- In some instances, paraneoplastic neurological syndromes and autoimmune encephalitides are related to an antibody-induced dysfunction of ion channels, a situation that can be labelled as autoimmune channelopathies. (anainf.fr)
Channels9
- 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)
- Such functional alterations of ion channels are caused by the specific fixation of an autoantibody upon its target, implying that autoimmune channelopathies are usually highly responsive to immuno-modulatory treatments. (anainf.fr)
- Autoantibodies in neurological autoimmune channelopathies may target either directly ion channels or proteins associated to ion channels and induce channel dysfunction by various mechanisms generally leading to the reduction of synaptic expression of the considered channel. (anainf.fr)
- In order to understand channelopathies, it is necessary to review the physiology of ion channels. (anaesthetist.com)
- Principles of expression and functional characterization of mutant ion channels in idiopathic epilepsies: Potassium and Calcium Channelopathies Dimitri. (slideplayer.com)
Channelopathy1
- 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)
Cardiomyopathies and channelopathies2
- This Expert Consensus Statement is a summary of recommendations from the Heart Rhythm Society (HRS) and European Heart Rhythm Association (EHRA) on genetic testing for patients with cardiomyopathies and channelopathies. (acc.org)
- 1. Genetic counseling is recommended for all patients and relatives with suspected heritable cardiomyopathies and channelopathies. (acc.org)
Periodic paralysis3
- The purpose of the CINCH Consortium is to provide information about three neurologic channelopathies: Andersen-Tawil Syndrome (ATS), which is a form of periodic paralysis, non-dystrophic myotonia, and episodic ataxia. (fastercures.org)
- Lehmann-Horn F, Jurkat-Rott K, Rüdel R. Periodic paralysis: understanding channelopathies. (medlineplus.gov)
- 22 Ca 2+ channelopathies GeneChannelDisease MuscleCACNA1S subunit of Ca V 1.1 HypoK periodic paralysis Malignant hyperthermia RYR1Ryanodine receptor (sarcoplasmic channel) Malignant hyperthermia Central core disease NeuronalCACNA1A 1 subunit of Ca V 2.1 (P/Q-type channel) Familial hemiplegic migraine Episodic ataxia type 2 Spinocerebellar ataxia type 6 Absence epilepsy? (slideplayer.com)
Painless channelopathies1
- Painful and painless channelopathies. (nih.gov)
Potassium channelopathies1
- The purpose of this review is to investigate whether potassium channelopathies are involved in the mechanisms responsible for ulceration that occurs throughout the GI tract . (bvsalud.org)
Neurologic channelopathies1
- Andersen Tawil syndrome, the non-dystrophic myotonias, and the episodic ataxias are all rare forms of neurologic channelopathies. (fastercures.org)
Genes2
Arrhythmias1
- Like other channelopathies , arrhythmias and symptoms typically occur at times of rest or sleep when vagal activity predominates. (thefreedictionary.com)
Genetic Testing2
- The statement is directed to all health care professionals who are involved with genetic testing for channelopathies and cardiomyopathies. (hrsonline.org)
- HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). (ox.ac.uk)
Muscle3
- Muscle channelopathies are also frequently painful, which together with impaired physical ability, significantly impacts on quality of life. (bmj.com)
- There are readily available symptomatic treatments for muscle channelopathies that can usually successfully ameliorate the burden of morbidity. (bmj.com)
- Channelopathies of skeletal muscle excitability. (medlineplus.gov)
Molecular3
- 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)
Dysfunction1
- Genetic Na+ channelopathies and sinus node dysfunction. (ox.ac.uk)
Paroxysmal1
- This multitude of potentially influential variables may explain the paroxysmal nature of many of the genetic channelopathies and their propensity to be precipitated by a variety of factors. (bmj.com)
Pathophysiology2
- 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)
Familial1
- Familial periodic paralyses are the prototypical channelopathies. (mhmedical.com)
Symptomatic1
- For most channelopathies the therapy is mainly empirical and symptomatic, often limited by lack of efficacy and tolerability for a significant number of patients. (nih.gov)