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Genetic mutations associated with epileptic encephalopathies
Genetic mutations associated with epileptic encephalopathies presenting in infancy | ||||||
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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