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Article

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

Molecular genetics & genomic medicine - 1 Oct 2020

Yuan Haiming, Yuan Huihua, Wang Qingming, Ye Wanhua, Yao Ruixia, Xu Wanfang, Liu Yanhui

Abstract excerpt

BACKGROUND: Pathogenic KCNA1 variants have been linked to episodic ataxia type 1 (EA1), a rare neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by fever, abrupt movements, emotional stress, and fatigue. Currently, over 40 KCNA1 variants have been identified in individuals with EA1. METHODS: A male patient displayed partial seizures in addition to...

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Identifiers

PMID: 32705822
DOI: 10.1002/mgg3.1434
PMCID: PMC7549609

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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