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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous wh...
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| Publicado no: | Am J Hum Genet |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4974067/ https://ncbi.nlm.nih.gov/pubmed/27476654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.003 |
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