Abstract:Pathogenic variants inKCNB1are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severity. Additionally, there are prominent behavioral disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently identified recurrent variant isKCNB1-p.R306C, a missense variant located within the S4 voltage-sensing tra… Show more
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