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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Detalles Bibliográficos
Autores principales: AlSaif, Shahad, Umair, Muhammad, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537489/
https://www.ncbi.nlm.nih.gov/pubmed/31205438
http://dx.doi.org/10.1177/1179573519849938

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537489/
https://www.ncbi.nlm.nih.gov/pubmed/31205438
http://dx.doi.org/10.1177/1179573519849938

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