CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
Neurology
; 55(7): 1040-2, 2000 Oct 10.
Article
em En
| MEDLINE
| ID: mdl-11061267
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Canais de Cálcio
/
Doenças Cerebelares
/
Coma
/
Enxaqueca com Aura
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article