De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Am J Hum Genet
; 93(5): 967-75, 2013 Nov 07.
Article
en En
| MEDLINE
| ID: mdl-24207121
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Epilepsias Mioclónicas
/
Proteínas de Unión al ADN
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Animals
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Año:
2013
Tipo del documento:
Article