1.
Ann Neurol
; 75(5): 788-92, 2014 May.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24591017
RESUMEN
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.
Asunto(s)
Epilepsias Parciales/genética , Mutación/genética , Serina-Treonina Quinasas TOR/genética , Niño , Preescolar , Epilepsias Parciales/diagnóstico , Epilepsia Rolándica/diagnóstico , Epilepsia Rolándica/genética , Femenino , Variación Genética/genética , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Linaje , Fenotipo
2.
Epilepsia
; 50(7): 1835-7, 2009 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-20831524