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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Detalles Bibliográficos
Autores principales: Kang, Seok Kyu, Hawkins, Nicole A., Echevarria-Cooper, Dennis M., Baker, Erin M., Dixon, Conor J., Speakes, Nathan, Kearney, Jennifer A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081335/
https://www.ncbi.nlm.nih.gov/pubmed/37034689
http://dx.doi.org/10.1101/2023.03.29.534736

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081335/
https://www.ncbi.nlm.nih.gov/pubmed/37034689
http://dx.doi.org/10.1101/2023.03.29.534736

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