Article
De novo KCNB1 mutations in epileptic encephalopathy.
Annals of neurology - 1 Oct 2014
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
Abstract excerpt
OBJECTIVE: Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism. METHODS: We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine the underlying cause...
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