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DEPDC5 takes a second hit in familial focal epilepsy
Loss-of-function mutations in a single allele of the gene encoding DEP domain–containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mut...
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| Publicado no: | J Clin Invest |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983308/ https://ncbi.nlm.nih.gov/pubmed/29708509 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI121052 |
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