====== Genetic mutations associated with epileptic encephalopathies ====== ^ Genetic mutations associated with epileptic encephalopathies presenting in infancy ^|||||| | Mutation Site | Ohtahara Syndrome | EME | West Syndrome | SMEI | Atypical RTT with Early Epilepsy | EFMR | | ARX | Yes | | Yes | | | | | CDKL5 | | | Yes | | Yes | | | ErbB4 | | Yes | | | | | | MAGI2 | | | Yes | | | | | PCDH19 | | | | Yes | | Yes | | PNKP | Yes | | Yes | | | | | SCN1A | | | | Yes | | | | SLC25 A22 | Yes | | | | | | | STXBP1 | Yes | | Yes | | | | Source[(:cite:pmid23044011>{{pmid>long:23044011}})] ===== References =====