1.
Ann Neurol
; 75(5): 788-92, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24591017
RESUMO
Recent studies reported DEPDC5 loss-of-function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandic epilepsy (3 of 207). In addition, we identified 3 families with unclassified focal childhood epilepsies carrying predicted truncating DEPDC5 mutations (3 of 82). The detected variants were all novel, inherited, and present in all tested affected (n=11) and in 7 unaffected family members, indicating low penetrance. Our findings extend the phenotypic spectrum associated with mutations in DEPDC5 and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes.
Assuntos
Epilepsias Parciais/genética , Mutação/genética , Serina-Treonina Quinases TOR/genética , Criança , Pré-Escolar , Epilepsias Parciais/diagnóstico , Epilepsia Rolândica/diagnóstico , Epilepsia Rolândica/genética , Feminino , Variação Genética/genética , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Linhagem , Fenótipo
2.
Epilepsia
; 50(7): 1835-7, 2009 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20831524