Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*

OBJECTIVE: SCN8A encephalopathy is a developmental epileptic encephalopathy typically caused by de novo gain‐of‐function mutations in Na(v)1.6. Severely affected individuals exhibit refractory seizures, developmental delay, cognitive disabilities, movement disorders, and elevated risk of sudden deat...

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Detalles Bibliográficos
Autores principales: Yu, Wenxi, Hill, Sophie F., Xenakis, James G., Pardo‐Manuel de Villena, Fernando, Wagnon, Jacy L., Meisler, Miriam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756374/
https://www.ncbi.nlm.nih.gov/pubmed/33140451
http://dx.doi.org/10.1111/epi.16741

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756374/
https://www.ncbi.nlm.nih.gov/pubmed/33140451
http://dx.doi.org/10.1111/epi.16741

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