Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation | Zendy

José Barros | Zendy; Joana Damásio | Zendy; Assunção Tuna | Zendy; Ivânia Alves | Zendy; Isabel Silveira | Zendy; José PereiraMonteiro | Zendy; Jorge Sequeiros | Zendy; Isabel Alonso | Zendy; Alda Sousa | Zendy; Paula Coutinho | Zendy

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Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation

Author(s) -

José Barros,

Joana Damásio,

Assunção Tuna,

Ivânia Alves,

Isabel Silveira,

José PereiraMonteiro,

Jorge Sequeiros,

Isabel Alonso,

Alda Sousa,

Paula Coutinho

Publication year - 2012

Publication title -

jama neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.298

H-Index - 231

eISSN - 2168-6157

pISSN - 2168-6149

DOI - 10.1001/jamaneurol.2013.591

Subject(s) - missense mutation , ataxia , migraine , cerebellar ataxia , penetrance , familial hemiplegic migraine , medicine , pediatrics , genetics , mutation , migraine with aura , phenotype , biology , psychiatry , gene , aura

To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene.

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