Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant

Pathogenic variants in KCNB1 are 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 di...

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Bibliographic Details

Published in:	Neurobiology of Disease
Main Authors:	Seok Kyu Kang, Nicole A. Hawkins, Christopher H. Thompson, Erin M. Baker, Dennis M. Echevarria-Cooper, Levi Barse, Tyler Thenstedt, Conor J. Dixon, Nathan Speakes, Alfred L. George, Jr, Jennifer A. Kearney
Format:	Article
Language:	English
Published:	Elsevier 2024-05-01
Subjects:	Epilepsy Encephalopathy Developmental disorder Autism spectrum disorder KV2.1 Voltage-gated potassium channels
Online Access:	http://www.sciencedirect.com/science/article/pii/S096999612400069X