Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryGenetic neurological channelopathies: molecular genetics and clinical phenotypes.New insights into the pathogenesis and therapeutics of episodic ataxia type 1Genetic causes of hypomagnesemia, a clinical overviewThe episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
P2860
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P2860
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
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2014 nî lūn-bûn
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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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Novel phenotype associated with a mutation in the KCNA1
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@ast
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
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label
Novel phenotype associated with a mutation in the KCNA1
@nl
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@ast
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@en
prefLabel
Novel phenotype associated with a mutation in the KCNA1
@nl
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@ast
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@en
P2093
P2860
P50
P356
P1476
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
@en
P2093
Constanze Gallenmüller
Elisabeth Hartl
Fabio Franciolini
Ilenio Servettini
Larissa Arning
Luca Guglielmi
Saskia Biskup
Thomas Klopstock
P2860
P356
10.3389/FPHYS.2014.00525
P50
P577
2014-01-01T00:00:00Z