CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy
K Vahedi, C Denier, A Ducros, V Bousson, C Levy… - Neurology, 2000 - AAN Enterprises
K Vahedi, C Denier, A Ducros, V Bousson, C Levy, H Chabriat, M Haguenau…
Neurology, 2000•AAN EnterprisesArticle 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 …
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 …
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.
American Academy of Neurology