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Article

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

Annals of the New York Academy of Sciences - 30 Apr 1999

Spauschus A, Eunson L, Hanna M G, Kullmann D M

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Share to Ataxia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10414318
DOI: 10.1111/j.1749-6632.1999.tb11310.x

Genes

KCNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.PMID 10414318Read ↗

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1Semantic proximity Read ↗

Three novel KCNA1 mutations in episodic ataxia type I familiesSemantic proximity Read ↗

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.Semantic proximity Read ↗

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 ChannelopathySemantic proximity Read ↗

Primary episodic ataxias: diagnosis, pathogenesis and treatment.Semantic proximity Read ↗

Episodic ataxia type 1: a neuronal potassium channelopathy.Semantic proximity Read ↗

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A geneSemantic proximity Read ↗

A novel mutation in KCNA1 causes episodic ataxia without myokymiaSemantic proximity Read ↗

A novel KCNA1 mutation causing episodic ataxia type I.Semantic proximity Read ↗

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.Semantic proximity Read ↗

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