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

2023-03-30

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 ident...

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Literature Corpus work: 4bdcd5e8-80db-5784-8e1f-34321c548ab5
DOI: 10.1101/2023.03.29.534736

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

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