A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
Epilepsia
; 51(9): 1915-8, 2010 Sep.
Article
en En
| MEDLINE
| ID: mdl-20738378
ABSTRACT
A boy with a clinical history of pharmacologically resistant Dravet syndrome died suddenly after falling asleep. The autopsy concluded that the cause of death was sudden unexpected death in epilepsy (SUDEP). Postmortem molecular analysis of the SCN1A gene by multiplex ligation-dependent probe amplification (MLPA), high-resolution melting curve analysis (HRMCA), and sequencing revealed a frameshift duplication of adenosine at position 504. The incidence of this mutation is discussed as a potential cause of SUDEP.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Canales de Sodio
/
Epilepsias Mioclónicas
/
Muerte Súbita
/
Malformaciones del Desarrollo Cortical
/
Mutación
/
Proteínas del Tejido Nervioso
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Epilepsia
Año:
2010
Tipo del documento:
Article
País de afiliación:
Suiza