Episodic ataxias.

doi:10.1016/B978-0-444-64189-2.00013-5

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Article

Episodic ataxias.

Handbook of clinical neurology - 1 Jan 2018

Jen Joanna C, Wan Jijun

Abstract excerpt

Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion and emotional stress, variably associated with progressive baseline ataxia. There are now eight designated subtypes based largely on genetic loci. Mutations have been identified in multiple individuals and families with EA1,...

Topics

Ataxia
Channelopathies
Excitatory Amino Acid Transporter 1
Humans
Kv1.1 Potassium Channel
Mutation

Source

Open in PubMed

Identifiers

PMID: 29891059
DOI: 10.1016/B978-0-444-64189-2.00013-5

Genes

KCNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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