CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy
2000; Lippincott Williams & Wilkins; Volume: 55; Issue: 7 Linguagem: Inglês
10.1212/wnl.55.7.1040
ISSN1526-632X
AutoresKatayoun Vahedi, Christian Denier, Anne Ducros, V. Bousson, Carlos Emílio Levy, Hugues Chabriat, M Haguenau, Elisabeth Tournier‐Lasserve, M.G. Bousser,
Tópico(s)Migraine and Headache Studies
ResumoFamilial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.
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