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De Novo KCNB1 Mutations in Epileptic Encephalopathy
BACKGROUND: Numerous studies have demonstrated increased load of de novo copy number variants (CNVs) or single nucleotide variants (SNVs) in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability and autism. METHODS: We searched for de novo mutat...
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| Autores principales: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4192091/ https://ncbi.nlm.nih.gov/pubmed/25164438 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24263 |
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