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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
PURPOSE: As part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation. METHODS: We compiled and analyzed exome sequenc...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823708/ https://www.ncbi.nlm.nih.gov/pubmed/29121005 http://dx.doi.org/10.1038/gim.2017.100 |