neurolists:genetic_mutations_associated_epileptic_encephalopathies

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]


1. a Beal JC, Cherian K, Moshe SL. 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]
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