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: Torkamani, Ali, Bersell, Kevin, Jorge, Benjamin S., Bjork, Robert L., Friedman, Jennifer R., Bloss, Cinnamon S., Cohen, Julie, Gupta, Siddharth, Naidu, Sakkubai, Vanoye, Carlos G., George, Alfred L., Kearney, Jennifer A.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Article
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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