Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
about
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channelProgressive ataxia due to a missense mutation in a calcium-channel geneNew insights into the pathogenesis and therapeutics of episodic ataxia type 1Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)Subunit composition of Kv1 channels in human CNSA missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigreeCharacterization of three episodic ataxia mutations in the human Kv1.1 potassium channelMoving gating charges through the gating pore in a Kv channel voltage sensor.The molecular biology of the autosomal-dominant cerebellar ataxias.The startle syndromes: physiology and treatment.Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.Genetic disorders of neuromuscular ion channels.Episodic ataxia type 1: a neuronal potassium channelopathy.Action potential broadening in a presynaptic channelopathy.Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression.Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.Potassium channels in Drosophila: historical breakthroughs, significance, and perspectives.An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+.Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.alpha subunit compositions of Kv1.1-containing K+ channel subtypes fractionated from rat brain using dendrotoxins.Congenital methemoglobinemia type II in a 5-year-old boy.Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1.
P2860
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P2860
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@ast
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@en
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@nl
type
label
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@ast
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@en
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@nl
prefLabel
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@ast
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@en
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@nl
P2093
P3181
P356
P1476
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
@en
P2093
D L Browne
R C Griggs
S T Gancher
P304
P3181
P356
10.1093/HMG/4.9.1671
P407
P577
1995-09-01T00:00:00Z