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Article

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Cephalalgia : an international journal of headache - 1 Jan 2014

Costa Cinzia, Prontera Paolo, Sarchielli Paola, Tonelli Alessandra, Bassi Maria Teresa, Cupini Letizia Maria, Caproni Stefano, Siliquini Sabrina, Donti Emilio, Calabresi Paolo

Abstract excerpt

BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. CASE: Here we report on a three-generation family with...

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PMID: 23918834
DOI: 10.1177/0333102413498941

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