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SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases
Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopat...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Epilepsy Society
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251340/ https://www.ncbi.nlm.nih.gov/pubmed/32509551 http://dx.doi.org/10.14581/jer.19017 |