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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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang: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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