CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy

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 hemipl egia, coma, and seizures, is reported. The patient also had mental retardat ion, permanent cerebellar ataxia with cerebellar atrophy, and right-sided b rain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the C ACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutat ions.