A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
J Child Neurol
; 29(2): 265-8, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-24097848
ABSTRACT
The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
/
ATPase Trocadora de Sódio-Potássio
/
Epilepsia
/
Hemiplegia
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Child Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2014
Tipo de documento:
Article