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[1]
References
1.
a
. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol. 2012 Nov;47(5):317-23. doi: 10.1016/j.pediatrneurol.2012.06.002.
[PMID: 23044011] [DOI: 10.1016/j.pediatrneurol.2012.06.002]
[PMID: 23044011] [DOI: 10.1016/j.pediatrneurol.2012.06.002]
Discussion