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Article

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

Neurobiology of disease - 1 May 2024

Kang Seok Kyu, Hawkins Nicole A, Thompson Christopher H, Baker Erin M, Echevarria-Cooper Dennis M, Barse Levi, Thenstedt Tyler, Dixon Conor J, Speakes Nathan, George Alfred L, Kearney Jennifer A

Abstract excerpt

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 disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently...

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Identifiers

PMID: 38485094
DOI: 10.1016/j.nbd.2024.106470
PMCID: PMC11024897

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