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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
Article
オンライン･アクセス: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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