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Article

Large CACNA1A deletion in a family with episodic ataxia type 2.

Archives of neurology - 1 Jun 2008

Riant Florence, Mourtada Reda, Saugier-Veber Pascale, Tournier-Lasserve Elisabeth

Abstract excerpt

BACKGROUND: Episodic ataxia (EA) is an ion channel disorder that manifests as paroxysmal attacks of imbalance and incoordination. Episodic ataxia type 2 (EA2) is characterized by prolonged episodes of ataxia with interictal nystagmus and is caused by mutations in CACNA1A. All mutations identified thus far (to our knowledge) are nonsense or missense point mutations. OBJECTIVE: To describe a family with EA2 having...

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PMID: 18541804
DOI: 10.1001/archneur.65.6.817

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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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