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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...
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| Format: | Artigo |
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| Jezik: | Inglês |
| Izdano: |
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3773011/ https://ncbi.nlm.nih.gov/pubmed/23934111 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature12439 |
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