CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy
- 10 October 2000
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 55 (7) , 1040-1042
- https://doi.org/10.1212/wnl.55.7.1040
Abstract
Article abstract Familial 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.Keywords
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