Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy

De novo gain-of-function mutations of SCN8A are a significant cause of developmental and epileptic encephalopathy (DEE) (MIM: 614558). The severely affected individuals exhibit refractory seizures, developmental delay, and cognitive disabilities, often accompanied by impaired movement. Individuals w...

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Detalles Bibliográficos
Autores principales: Yu, Wenxi, Mulligan, Megan K., Williams, Robert W., Meisler, Miriam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756487/
https://www.ncbi.nlm.nih.gov/pubmed/35047853
http://dx.doi.org/10.1016/j.xhgg.2021.100064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756487/
https://www.ncbi.nlm.nih.gov/pubmed/35047853
http://dx.doi.org/10.1016/j.xhgg.2021.100064

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