Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
Neurology
; 58(7): 1122-4, 2002 Apr 09.
Article
em En
| MEDLINE
| ID: mdl-11940708
ABSTRACT
Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.
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Base de dados:
MEDLINE
Assunto principal:
Canais de Sódio
/
Epilepsias Mioclônicas
/
Mutação
/
Proteínas do Tecido Nervoso
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article