Biallelic 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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2019-05-01
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Series: | Journal of Central Nervous System Disease |
Online Access: | https://doi.org/10.1177/1179573519849938 |