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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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Detalhes bibliográficos
Publicado no:J Cent Nerv Syst Dis
Main Authors: AlSaif, Shahad, Umair, Muhammad, Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
Assuntos:
Acesso em linha: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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