Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels
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Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsAn integer programming framework for inferring disease complexes from network data.Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyGating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.Why biophysicists make models: quantifying modulation of the M currentGenotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.Activation of axonal Kv7 channels in human peripheral nerve by flupirtine but not placebo - therapeutic potential for peripheral neuropathies: results of a randomised controlled trial.Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunitNervous system KV7 disorders: breakdown of a subthreshold brake."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Modulation of Kv7 channels and excitability in the brain.Ionic permeation and conduction properties of neuronal KCNQ2/KCNQ3 potassium channels.The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutantsA Loss-of-Function Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability
P2860
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P2860
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels
description
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Januar 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 15 January 2002)
@en
vedecký článok (publikovaný 2002/01/15)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/01/15)
@nl
наукова стаття, опублікована в січні 2002
@uk
مقالة علمية (نشرت في 15-1-2002)
@ar
name
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@ast
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@en
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@nl
type
label
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@ast
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@en
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@nl
prefLabel
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@ast
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@en
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@nl
P2093
P1476
Benign familial neonatal convu ...... KCNQ2/KCNQ3 potassium channels
@en
P2093
Antonio Pascotto
Emanuele Miraglia del Giudice
Giangennaro Coppola
Lucio Annunziato
Maurizio Taglialatela
Pasqualina Castaldo
P356
10.1523/JNEUROSCI.22-02-J0003.2002
P407
P577
2002-01-15T00:00:00Z