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[Diversity of CACNA1A-related disorders].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2021

Rudenskaya G E, Sermyagina I G, Chukhrova A L, Dadali E L, Lozier E R, Shchagina O A

Abstract excerpt

Four cases of autosomal dominant CNS disorders related to CACNA1A mutations and detected by massive parallel sequencing are reported: a non-familial case of episodic ataxia type 2 (EA2) with the previously reported mutation c.269_270insA (p.Tyr90Ter) in a 35-year-old man; familial hemiplegic migraine type 1 (FHM1) in a girl aged 3 years 10 months and her mother aged 38 yrs with a novel mutation 1829C>T...

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Identifiers

PMID: 35041321
DOI: 10.17116/jnevro2021121121106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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