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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...
Autores principales: | Yu, Wenxi, Hill, Sophie F., Xenakis, James G., Pardo‐Manuel de Villena, Fernando, Wagnon, Jacy L., Meisler, Miriam H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
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 |
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