Mutations in potassium channels. Medical search. Frequent questions

To summarize and discuss data from recent studies implicating mutations in potassium channel genes in the pathogenesis of primary aldosteronism. (nih.gov)
KCNJ5 mutations lead to reduced K⁺/Na⁺ channel selectivity and Na⁺ influx, predisposing to cell membrane depolarization, increased calcium influx, increased expression of genes promoting aldosterone synthesis, and increased aldosterone production by adrenocortical cells. (nih.gov)
Several additional genes have been associated with benign familial neonatal convulsions in single families, including KCNQ5 M-type potassium channel in one family. (medscape.com)
Expression of the mutated genes in xenopus oocytes has provided some insight into how the potassium channel mutation leads to lowering of the seizure threshold. (medscape.com)
This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. (nih.gov)
Brugada syndrome can be caused by mutations in one of several genes. (nih.gov)
Mutations in other genes can also cause Brugada syndrome. (nih.gov)
Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. (nih.gov)
Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. (nih.gov)
Mutations in these genes disrupt the flow of ions, impairing the heart's normal rhythm. (nih.gov)
Two distinct forms, EA1 and EA2 are caused by mutations in the neuronal potassium (KCNA1) and calcium (CACNA1A) channel genes respectively. (bmj.com)
Furthermore, our findings indicate that loss of channel function is a key disease mechanism and highlight genetic heterogeneity, suggesting there are additional new channel genes responsible for episodic ataxia. (bmj.com)
The rapid referral time reflects the importance of finding the 40% of patients with a mutation in the pancreas potassium channel genes that can improve their glucose control by swapping their insulin injections for sulphonylurea tablets. (sciencedaily.com)
Importantly, it is one of the highest vulnerability genes for mutations that cause Parkinson's disease. (umich.edu)
2006). Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype . (up.pt)
Mutations in different genes including Na + , Ca 2+ and K + channel genes have been associated with BrS, but nevertheless, 20-30% of BrS cases are related to mutations or variants in the SCN5A (encoding the ion channel Na v 1.5) gene. (umm.de)
Therefore, we used hiPS-CMs from BrS-patients carrying mutations or variants in Na + and Ca 2+ channel genes to perform mechanistic and drug-screening studies, in order to unveil pathogenic roles and underlying mechanisms of specific gene mutations or variants detected in BrS-patients and look for better effective drugs. (umm.de)
Mutations in genes which encode subunits of CNS sodium, potassium, calcium channels, GABAA and nicotinic receptors have been reported in association with various epilepsy syndromes 2-3 (Table 1). (acnr.co.uk)
It was the first epilepsy disorder for which gene linkage studies established a disease locus, and subsequently identified a pair of potassium channel genes that had not previously been cloned. (acnr.co.uk)
Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). (utsouthwestern.edu)
Instead, they conducted whole exome sequencing (WES) - sequencing all genes in the human genome that encode proteins - on a child with epilepsy, as well as her unaffected sister and parents, in search of mutations that explain the underlying cause of the disorder. (northwestern.edu)
Still, only half of ADTKD patients show mutations for these four identified genes. (chikd.org)

In 1998, the channel subunits that underlie the M-current were identified as members of the voltage-gated Kv7 (KCNQ) potassium channel family ( Jentsch, 2000 ). (jneurosci.org)
Instead, this review is focused on the genetic neuronal ion channel disorders and specifically, those inherited or de novo mutations in ion channel subunits that result in brain dysfunction. (acnr.co.uk)
KCNT1 and KCNT2 respectively encode the K Na 1.1 (Slack) and K Na 1.2 (Slick) subunits of the sodium-dependent voltage-gated potassium channel K Na . (frontiersin.org)
These subunits co-assemble to form homo or tetra-heteromeric K Na channels. (frontiersin.org)
Whole-cell voltage-clamp recordings revealed that KARs incorporating the GluK2(A657T) subunits show profoundly altered channel gating and are constitutively active in nominally glutamate-free extracellular media. (neurology.org)
NEURON mod files from the paper: Miceli et al, Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits, PNAS 2013 Feb 25. (yale.edu)
Epub ahead of print] In this paper, functional studies revealed that in homomeric or heteromeric configuration with KV7.2 and/or KV7.3 subunits, R213W and R213Q mutations markedly destabilized the open state, causing a dramatic decrease in channel voltage sensitivity. (yale.edu)
1 . Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M (2013) Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. (yale.edu)

No evidence for mutations in a putative subunit of the beta-cell ATP-sensitive potassium channel (K-ATP channel) in Japanese NIDDM patients. (ox.ac.uk)
We investigated whether defects in the recently cloned gene for a putative subunit of this channel (KATP-2) could be a cause of diabetes in Japanese patients. (ox.ac.uk)
2009). First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy . (up.pt)
and BSND gene (1p32.3), encoding barttin, the beta-subunit for the basolateral chloride channels, CLCNKA and CLCNKB in type IV. (orpha.net)
BSND is a vital beta subunit for CLC chloride channels. (prospecbio.com)
It has very recently been shown that heterozygous activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive K + channel involved in the regulation of insulin secretion, cause PND. (diabetesjournals.org)
The mutation is predicted to change a codon for alanine to that of a threonine at position 657 (A657T) in the GluK2 kainate receptor (KAR) subunit, a member of the ionotropic glutamate receptor gene family. (neurology.org)
Human ether-a-go-go related gene (HERG) encodes the pore-forming alpha subunit of the delayed rectifier potassium channel IKr. (thermofisher.com)
Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). (cdc.gov)

Potassium channel gene variants are associated with the primary aldosteronism phenotype in animals (Kcnma1, TASK-1, and TASK-3) and humans (HERG and KCNJ5). (nih.gov)
1. Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway. (nih.gov)
2. G604S-HERG mutation in LQT2 leads to autophagy via the UPR-related pathway. (nih.gov)
4. HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism. (nih.gov)
6. The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. (nih.gov)
9. HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency. (nih.gov)
16. Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways. (nih.gov)
Background -Loss-of-function mutations in hERG (encoding the Kv11.1 voltage-gated potassium channel) cause long QT syndrome (LQT2) due to prolonged cardiac repolarization. (ku.dk)
We measured secretion of these hormones and cardiac repolarization in response to glucose ingestion in LQT2 patients with functional mutations in hERG and matched healthy participants, testing the hypothesis that LQT2 patients have increased incretin and β cell- and decreased α cell function and thus lower glucose levels. (ku.dk)
Mutations in the gene encoding HERG increase beat-to-beat variability and early after depolarization. (thermofisher.com)

At membrane potentials negative to potassium's reversal potential, inwardly rectifying K+ channels support the flow of positively charged K+ ions into the cell, pushing the membrane potential back to the resting potential. (wikipedia.org)
The phenomenon of inward rectification of Kir channels is the result of high-affinity block by endogenous polyamines, namely spermine, as well as magnesium ions, that plug the channel pore at positive potentials, resulting in a decrease in outward currents. (wikipedia.org)
The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. (medlineplus.gov)
In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. (medlineplus.gov)
Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. (medlineplus.gov)
Patients may also present with a history of perinatal edema and show pseudohyperkalemia due to the loss of potassium ions from RBCs stored at room temperature. (nature.com)
This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. (nih.gov)
Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. (nih.gov)
As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. (nih.gov)
To keep the lysosome in acidic equilibrium, Xu knew there must be an ion channel that regulates the acidity of that environment by regulating the concentration of hydrogen ions (called protons in this context-the nucleus of a hydrogen atom with the atom stripped of its electron) within the lysosome. (umich.edu)
The researchers have used this technique to find channels for other ions: calcium, sodium, potassium, chloride and iron, and now protons. (umich.edu)
Ion channels are specialized proteins found in cell membranes, which facilitate the movement of specific ions across the plasma membrane. (spandidos-publications.com)
These proteins control the traffic flow of potassium ions between the inside and outside of the cell, and hence, electrical communication between neurons and muscles. (ehu.eus)

To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. (neurology.org)

Current research shows a variety of genetic mutations are at least partly responsible. (medicinenet.com)
Northwestern Medicine scientists discovered that genetic mutations in the KCNB1 potassium channel gene can result in severe early onset epilepsy. (northwestern.edu)
Because extrapulmonary and pulmonary tuberculosis likely have different underlying pathophysiology, identification of genetic mutations associated with extrapulmonary disease is important. (biomedcentral.com)

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. (nih.gov)
The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. (nih.gov)
PIEZO1 encodes a mechanosensitive ion channel that translates a mechanic stimulus into calcium influx 7 . (nature.com)
MIM*602754), encoding the calcium ion-dependent potassium selective Gardos channel, was identified as being associated with DHSt 9 . (nature.com)
Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. (nih.gov)
The lab facility provides useful platforms for studying ion channel functions including ion channel gating kinetics, intracellular calcium homeostasis and single cell contraction. (umm.de)
SQTS types 4-6 are linked to a loss of function of calcium channels resulting from mutations in CACNA1C (SQTS4), CACNB2 (SQTS5) and CACNA2D1 (SQTS6) gene. (umm.de)
A final variant (type V) is associated with heterozygous activating mutations of the CASR gene (3q21.1), encoding the calcium sensing receptor. (orpha.net)
In episodic ataxia type 2 (EA2), which is frequently caused by mutations of the PQ-calcium channel, the efficacy of 4-AP (5-10 mg TID) has been shown in a randomized controlled trial (RCT). (benthamscience.com)
He underwent fluid resuscitation and investigations showed the following results: serum sodium 128 mmol/L, chloride 76 mmol/L, potassium 3.3 mmol/L, bicarbonate 28 mmol/L, anion gap 15.6 mmol/L, urea 35 mg/dL, creatinine 1.3 mg/dL, calcium 10.5 mg/dL, phosphorus 7.6mg/dL and magnesium 2.3 mg/dL. (who.int)

Some of these loci have been identified further as specific mutations in the KCNQ2 and KCNQ3 M-type potassium channel proteins. (medscape.com)
In terms of function, these proteins transport potassium (K+), with a greater tendency for K+ uptake than K+ export. (wikipedia.org)
Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels. (neurotree.org)
The Kv family of ion channels are tubular-shaped proteins allocated in the membrane of neurons. (ehu.eus)
Extend the algorithm developed by our group based on Machine Learning intended for clinical use, which correctly predicts the pathogenicity of possible mutations that occur in these proteins. (ehu.eus)

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia. (cdc.gov)

Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1: OMIM#194380) is a dominantly inherited red cell membrane disorder caused by gain-of-function mutations of PIEZO1 in most cases. (nature.com)
Transient outward current (Ito) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. (bvsalud.org)

In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. (nih.gov)
In the new study , published in the Proceedings of the National Academy of Sciences, Chung's group, in collaboration with psychology professor Justin Rhodes and molecular and integrative physiology professors Eric Bolton and Catherine Christian-Hinman , bred a population of mice with the gene mutation. (illinois.edu)
Therefore, it is unlikely that only one factor, pathway or gene mutation will explain all forms and cases 2 . (ersjournals.com)

The gene, KCND2 , codes for a protein that regulates potassium channels, which control electrical signals that travel along neurons. (nih.gov)
Conditional deletion of Kcnq2 from cerebral cortical pyramidal neurons showed that SF0034 requires the expression of KCNQ2/3 channels for reducing the excitability of CA1 hippocampal neurons. (jneurosci.org)
In 1980, Brown and Adams discovered a slowly activating voltage-gated potassium current that was blocked by muscarinic G-protein-coupled receptors in sympathetic neurons, which they named the M-current. (jneurosci.org)
The mutation prevented the potassium channel from properly embedding in the cell membranes of neurons, causing it to build up inside the neuronal cells instead. (illinois.edu)
Next, the researchers want to study what causes the neurons to die, and whether other mutations to the potassium channel cause the same symptoms. (illinois.edu)
Moreover, it is unclear why or how motor neurons die in amyotrophic lateral sclerosis (ALS), yet we do know that the activity of these channels is altered and that these dying cells undergo spontaneous (uncontrolled) electrical discharges. (ehu.eus)
Hence, defects in ion channels may cause these motor neurons to degenerate. (ehu.eus)
KCNB1 potassium channels are critical for neurons to generate electrical signals and communicate with one another," said Jennifer Kearney, PhD, associate professor in Pharmacology and a principal author of the study. (northwestern.edu)

A single de novo point mutation in the GRIK2 gene was identified as causative for the neurologic symptoms of the proband. (neurology.org)

The analysis, which was done using state-of-the-art whole exome sequencing and genome mapping techniques, found that spontaneous (de novo) mutations contribute to the pathogenesis of severe CHD. (nih.gov)
EIMFS have a genetic origin and are mostly caused by de novo mutations in the KCNT1 gene, and much more rarely in the KCNT2 gene. (frontiersin.org)
In this study, we associate a de novo gain-of-function mutation in the GRIK2 gene with deficits in motor and higher order cognitive function. (neurology.org)

The Kir2.6 also known as inward rectifier potassium channel 18 is a protein that in humans is encoded by the KCNJ18 gene. (wikipedia.org)
3. TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR). (nih.gov)
The brain's "off" switches fail in part due to protein defects that prevent potassium from exiting nerve cells and calming them. (hopkinsmedicine.org)
Li explains that ZnPy has a shape that allows it to fit into the gate region of the channel protein and allow more potassium flow. (hopkinsmedicine.org)
We were interested that if there was the V-ATPase to pump a proton in, lysosomes must have an ion channel protein to release the proton when the proton level was too high inside the lysosome," Xu said. (umich.edu)
Furthermore, guided by mutations in patients with congenital I- transport defects, she has identified amino acid substitutions in NIS that change the substrate specificity and stoichiometry of the protein. (thyroid.org)
It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL. (bvsalud.org)

Germline KCNJ5 mutations cause bilateral, familial primary aldosteronism with variable severity and genotype:phenotype correlations. (nih.gov)
Somatic KCNJ5 mutations occur in approximately 40% of aldosterone-producing adenomas, and are associated with younger age, female sex, more severe primary aldosteronism, lack of responsiveness of plasma aldosterone to upright posture, and zona fasciculata histology. (nih.gov)
Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. (medlineplus.gov)

20. A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel. (nih.gov)
Recently, a mutation in the cardiac Cl/HCO3 exchanger AE3 was detected in SQTS-families. (umm.de)
Dr. Reyna-Neyra has also studied the interaction between NIS and the KCNQ1-KCNE2 potassium channel complex critical in cardiac function. (thyroid.org)

However, when the membrane potential is set positive to the channel's resting potential (e.g. +60 mV), these channels pass very little current. (wikipedia.org)
Those more "typical" potassium channels preferentially carry outward (rather than inward) potassium currents at depolarized membrane potentials, and may be thought of as "outwardly rectifying. (wikipedia.org)
They, along with the "leak" channels, establish the resting membrane potential of the cell. (wikipedia.org)
Inward rectifiers play a role in setting cellular membrane potentials, and closing of these channels upon depolarization permits the occurrence of long duration action potentials with a plateau phase. (wikipedia.org)
Inwardly rectifying potassium channels, such as Kir2.6, maintain resting membrane potential in excitable cells and aid in repolarization of cells following depolarization. (wikipedia.org)
Voltage-gated Kv7 (KCNQ) channels are voltage-dependent potassium channels that are activated at resting membrane potentials and therefore provide a powerful brake on neuronal excitability. (jneurosci.org)
Especially, potassium channels that are open at potentials close to the resting membrane potential, such as the M-channel, provide a powerful brake to neuronal excitability. (jneurosci.org)
and therefore increases KCNQ2-5 channel activity both at resting membrane potentials and after a train of action potentials. (jneurosci.org)
It is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called channelopathies, which are inherited diseases caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. (nih.gov)
Function of K+ channel in cerebellar cortex altered due to this mutation results in extracellular accumulation of potassium, reduction of membrane potential and subsequent occurrence of neurological attacks. (genomia.cz)
Altered transcription, assembly, and membrane trafficking of ion channels may also contribute to many acquired neurological ion channel disorders. (acnr.co.uk)
sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis trans-membrane regulator gene (CFTR) on chromosome 7. (who.int)

CHAMPAIGN, Ill. - Mice with a genetic mutation that's been observed in patients with epileptic encephalopathy, a severe form of congenital epilepsy, exhibit not only the seizure, developmental and behavioral symptoms of the disorder, but also neural degeneration and inflammation in the brain, University of Illinois Urbana-Champaign researchers found in a new study. (illinois.edu)
Our results illustrate the power of clinical exome sequencing to find novel gene mutations in patients with epileptic encephalopathy," said Jennifer Kearney, PhD, associate professor in Pharmacology. (northwestern.edu)

This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. (utsouthwestern.edu)

Genetic or experience-dependent reduction of KCNQ2/3 channel activity is linked with disorders that are characterized by neuronal hyperexcitability, such as epilepsy and tinnitus. (jneurosci.org)
Voltage-gated potassium channels are essential regulators of neuronal excitability ( Bean, 2007 ). (jneurosci.org)

Dehydrated hereditary stomatocytosis-2 (DHS2, OMIM#616689) is caused by a heterozygous mutation in KCNN4 . (nature.com)
We identified in nine patients seven heterozygous nonsynonymous mutations: three of them (V59M, R201C, and R201H) were already described, and the four novel mutations resulted in an amino acid change of Kir6.2 at positions F35L, G53N, E322K, and Y330C. (diabetesjournals.org)

Results: All 11 ATS families harbored pathogenic mutations in KCNJ2 with six mutations not previously reported. (uniba.it)
Gene-editing using CRISPR/Cas 9-technique provides the opportunity to correct mutations in diseased cells, which is helpful for studying pathogenic roles of gene mutations or variants with unknown significance. (umm.de)
However, the pathogenic roles and mechanisms of most detected gene mutations or variants have not been clarified. (umm.de)

A channel that is "inwardly-rectifying" is one that passes current (positive charge) more easily in the inward direction (into the cell) than in the outward direction (out of the cell). (wikipedia.org)
Other inwardly rectifying channels, termed "strong inward rectifiers," carry very little outward current at all, and are mainly active at voltages negative to the K+ reversal potential, where they carry inward current (the much larger currents below the 0 nA line in figure 1). (wikipedia.org)

His height can appear at birth or later in the life ac- leading to a relatively high bicarbonate and weight were below the 3rd percen- cording to the type of mutation, which level in the contracted extracellular vol- tile, temperature was 38.7 °C, heart rate also predicts the severity of the disease ume (haemoconcentration) [ 3,8,9,15 ], 98/min, respiratory rate 30/min, blood [ 1 ]. (who.int)

This hyperaldosteronism will potassium chloride supplementation. (who.int)
The patient was discharged on sodium chloride and potassium chloride supplementation. (who.int)

The gene TRESK has been identified as the site of one such genetic mutation. (medicinenet.com)
The TRESK gene provides the blueprints for a potassium ion channel that is believed to help your nerve cells rest. (medicinenet.com)
2010). A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura . (up.pt)

Plasma renin activity (PRA), aldosterone levels, plasma volume, and serum potassium concentrations remain essentially unchanged with nifedipine use. (medscape.com)

And, because mutations explained pathogenesis in only 10 percent of the patients, this study also lets us know that there are another 90 percent of the cases where the cause of CHD is still unknown. (nih.gov)
Fourth, molecular studies of all expressed mutations demonstrate a loss of channel function as critical in disease pathogenesis. (bmj.com)

Potassium supplementation should not be routinely administered with spironolactone because of the potential for the development of hyperkalemia. (medscape.com)

Among this expanding group, neurological ion channel disorders are among the best characterised, reflecting the fundamental importance of electrical excitability in the membranes of nerve and muscle cells. (acnr.co.uk)

Bartter syndrome results from a defect in sodium, potassium and chloride reabsorption at the level of Henle's loop. (orpha.net)
BSND gene mutations are linked with Bartter syndrome with sensorineural deafness. (prospecbio.com)

What is surprising is the self-remitting nature of the condition, that many individuals never have another seizure, and that the profound abnormalities of the voltage-gated potassium channel do not appear to compromise the nervous system in any other way. (medscape.com)
Cystic fibrosis (CF) is an autosomal required intravenous fluid therapy and stable, revealed a thriving child with recessive condition caused by the was discharged after correction of his the following serum biochemical re- mutation of the cystic fibrosis trans- biochemical abnormalities. (who.int)

This gene encodes potassium channels (K+ channels) that are present in central nervous system, eyes, internal ear and kidneys. (genomia.cz)

Retigabine, a small molecule that activates KCNQ2-5 channels by shifting their voltage-dependent opening to more negative voltages, is an US Food and Drug Administration (FDA) approved anti-epileptic drug. (jneurosci.org)
As a result, the development of improved KCNQ2/3 channel activators is crucial for the treatment of hyperexcitability-related disorders. (jneurosci.org)
Heterologous expression of KCNQ2/3 channels in HEK293T cells showed that SF0034 was five times more potent than retigabine at shifting the voltage dependence of KCNQ2/3 channels to more negative voltages. (jneurosci.org)

Molecular expression studies indicated that five of the mutations exerted a dominant negative effect on the wild-type allele. (uniba.it)
In this study, we present the clinical, genetic and molecular expression results of mutations identified in a series of over 100 families from the UK who presented with clinical episodic ataxia over the last 15 years. (bmj.com)
Some indirect evidence suggested there was probably a proton permeable channel in lysosomes whose molecular basis was unknown that was somehow involved with the pH homeostasis. (umich.edu)
Perform Molecular dynamics simulations to support the hypothesis that certain mutations cause erroneous cotranslational folding of the channel inside the Ribosome. (ehu.eus)

BrS type 1 ECG could be unmasked by fever, sodium channel blockers and increased parasympathetic state. (umm.de)

When first discovered, inward rectification was named "anomalous rectification" to distinguish it from outward potassium currents. (wikipedia.org)

Triamterene increases sodium excretion and reduces the excessive loss of potassium and hydrogen associated with hydrochlorothiazide. (medscape.com)

Two silent polymorphisms were found and confirmed by sequencing, but no missense or nonsense mutations were detected. (ox.ac.uk)

Mutations occurring on the Kv channels have been linked to different subtypes of epilepsies. (ehu.eus)

In the present study, we screened the KCNJ11 gene for mutations in French patients with PND. (diabetesjournals.org)

When mutations occur in this gene, they may cause nerve cells to become overexcited, making them more responsive to less pain. (medicinenet.com)

Spironolactone competitively binds receptors at the aldosterone-dependent sodium-potassium exchange site in the distal convoluted renal tubule. (medscape.com)
It exerts a diuretic effect on the distal renal tubule to inhibit reabsorption of sodium in exchange for potassium and hydrogen. (medscape.com)
Renal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy. (neurotree.org)
These heteromeric channels are restricted to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. (prospecbio.com)

We propose that SF0034 provides, not only a powerful tool for investigating ion channel properties, but, most importantly, it provides a clinical candidate for treating epilepsy and preventing tinnitus. (jneurosci.org)
Our findings broaden the range of clinical features and mutations associated with the episodic ataxias and have lead directly to a DNA diagnostic service. (bmj.com)
however, more systematic studies are required to determine which K + channels may be utilized for the clinical treatment of HCC, particularly in the advanced stages of the disease and in cases where patients are resistant to the existing drugs. (spandidos-publications.com)

Studies with animals have demonstrated, that a nonselective blockage of voltage-gated potassium channels (mainly Kv1.5) increases Purkinje- cell (PC) excitability. (benthamscience.com)
K Na channels are voltage-gated potassium channels that are activated by an increase of cytoplasmic Na + concentration. (frontiersin.org)

Dysfunction of potassium channels has notably been involved in various types of epileptic encephalopathies, including epilepsy of infancy with migrating focal seizures (EIMFS), previously known as malignant migrating partial seizures of infancy. (frontiersin.org)
However, the mutations caused channel dysfunction that in turn causes excessive excitability, resulting in seizures and disrupted development. (northwestern.edu)
The results applied to two other patients with similar dysfunction whose WES had revealed mutations in KCNB1 earlier without explanation. (northwestern.edu)

So the team approached this study without a hypothesis that focused on a specific genetic mutation. (northwestern.edu)

SQTS types 1-3 are linked to a gain of function of potassium channels caused by mutations in the KCNH2 (SQTS1), KCNQ1 (SQTS2) and KCNJ2 (SQTS3) gene. (umm.de)

The malfunction of the channels has been implicated in several diseases. (wikipedia.org)

Five mutations (T75M, D78G, R82Q, L217P, and G300D) were expressed, all of which resulted in nonfunctional channels when expressed alone, and co-expression with wild-type (WT) KCNJ2 demonstrated a dominant negative effect. (uniba.it)
Conclusion: Six new disease-causing mutations in KCNJ2 were identified, one of which was in a PIP2 binding site. (uniba.it)
KCNJ2 mutations are an important cause of ATS in the UK. (uniba.it)

In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene. (nih.gov)

Analysis of serum electrolytes gave the following results: sodium 124 mmol/L, potassium 4 mmol/L, chloride 84 mmol/L, bicarbonate 29 mmol/L and creatinine 0.4 mg/dL. (who.int)

Given the severity of the impairment to the M-type potassium channel, that these seizures are difficult to treat is not surprising, because no currently used antiepileptic medications are known to increase the efficiency of the potassium channel. (medscape.com)
The researchers then tested defective channels that contain the same mutations known in humans to cause mild epilepsy-like seizures in infants. (hopkinsmedicine.org)
They found the mutations in three children with epileptic encephalopathy, a name that refers to a group of epilepsy disorders that cause seizures and difficulties with cognitive and motor development. (northwestern.edu)
But various mutations are involved with different types of seizures in different patients. (northwestern.edu)

Anatomy19

Organisms18

Diseases9

Chemicals and Drugs135

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Phenomena and Processes52

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science3

Health Care2

Genes22

Subunits8

Subunit9

HERG10

Ions13

Inherited or de novo mutations1

Genetic mutations3

Calcium10

Proteins5

Autosomal dominant1

Gain-of-function mutati2

Gene mutation3

Neurons8

Point mutation1

Novo3

Protein7

KCNJ53

Cardiac3

Membrane13

Patients with epileptic encephalopathy2

Subfamily1

Neuronal2

Heterozygous2

Pathogenic3

Inwardly2

Type of Mutation1

Chloride supplementation2

TRESK3

Renin1

Pathogenesis2

Supplementation1

Neurological1

Bartter2

Abnormalities2

Encodes1

KCNQ23

Molecular4

Blockers1

Outward potassium1

Loss of potassium1

Missense1

Epilepsies1

KCNJ111

Occur1

Renal4

Clinical3

Voltage-gated po2

Dysfunction3

Hypothesis1

KCNQ11

Diseases1

KCNJ23

SCN5A1

Serum1

Seizures4