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Article

Phenotypic variability of episodic ataxia type 2 mutations: a family study.

European neurology - 1 Jan 2010

Jung Julien, Testard Hervé, Tournier-Lasserve Elisabeth, Riant Florence, Vallet Anne-Evelyne, Berroir Stéphane, Broussolle Emmanuel

Abstract excerpt

BACKGROUND: Episodic ataxia type 2 (EA2) is characterized by paroxysmal bouts of ataxia and progressive cerebellar dysfunction. Other manifestations may also be associated, such as migraine attacks with or without aura, absence epilepsy and mental retardation. METHODS: To describe the intrafamilial variability of clinical manifestations of 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide...

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PMID: 20639635
DOI: 10.1159/000315145

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