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De novo mutations in the classic epileptic encephalopathies
Epileptic encephalopathies (EE) are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here, we report a screen for de novo mutations in patients with two classical EE: infantile spasms (IS, n=149) and Lennox-Gastaut Syndrome (LGS, n=115). We sequenced t...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011/ https://www.ncbi.nlm.nih.gov/pubmed/23934111 http://dx.doi.org/10.1038/nature12439 |