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...

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Publicado en:J Med Case Rep
Autores principales: Sharkia, Rajech, Hengel, Holger, Schöls, Ludger, Athamna, Muhammad, Bauer, Peter, Mahajnah, Muhammad
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4810572/
https://ncbi.nlm.nih.gov/pubmed/27021235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0854-2
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