Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.
Epilepsia
; 54(8): e112-6, 2013 Aug.
Article
em En
| MEDLINE
| ID: mdl-23899126
ABSTRACT
There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome do QT Longo
/
Saúde da Família
/
Morte Súbita
/
Epilepsia
/
Canais de Potássio Éter-A-Go-Go
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Epilepsia
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Itália