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 |