Severe neonatal seizures: From molecular diagnosis to precision therapy?
Rev Neurol (Paris)
; 172(3): 171-3, 2016 Mar.
Article
en En
| MEDLINE
| ID: mdl-26993565
ABSTRACT
Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes have been associated with EOEE, and to date, it is difficult to find a common mechanism to explain EOEE. In this short review, we show that two mains genes are involved in EOEE STXBP1 and KCNQ2. Focusing on KCNQ2 related EOEE, we show that a relatively similar phenotype can be related to various consequences of mutations on a single gene. This will probably challenge the treatment of EOEE patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Convulsiones
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Rev Neurol (Paris)
Año:
2016
Tipo del documento:
Article