Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report

BACKGROUND: Dravet syndrome, a rare genetic disorder with early-onset epileptic encephalopathy, was first described by Dravet in 1978. Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage-gated sodium channel. CASE PRESE...

Descripción completa

Detalles Bibliográficos
Autores principales: Sharkia, Rajech, Hengel, Holger, Schöls, Ludger, Athamna, Muhammad, Bauer, Peter, Mahajnah, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810572/
https://www.ncbi.nlm.nih.gov/pubmed/27021235
http://dx.doi.org/10.1186/s13256-016-0854-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810572/
https://www.ncbi.nlm.nih.gov/pubmed/27021235
http://dx.doi.org/10.1186/s13256-016-0854-2

Ejemplares similares