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Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review
The voltage-gated sodium channel neuronal type 2 alpha subunit (Na(v)α1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to...
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| Publicado en: | J Cent Nerv Syst Dis |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
SAGE Publications
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6537489/ https://ncbi.nlm.nih.gov/pubmed/31205438 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1179573519849938 |
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