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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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Pubblicato in:J Cent Nerv Syst Dis
Autori principali: AlSaif, Shahad, Umair, Muhammad, Alfadhel, Majid
Natura: Artigo
Lingua:Inglês
Pubblicazione: SAGE Publications 2019
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Accesso online: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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