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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 no: | J Med Case Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | 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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