Treatment of epilepsy in Rett syndrome.
BACKGROUND
Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs.


OBJECTIVE
To find the optimal treatment for epilepsy in RTT.


METHODS
We performed a retrospective study on 110 female patients with confirmed MECP2 mutations.


RESULTS
The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED.
Huppke
Peter
P
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany. phuppke@med.uni-goettingen.de
Köhler
Karola
K
Brockmann
Knut
K
Stettner
Georg M
GM
Gärtner
Jutta
J
D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D018572:Disease-Free Survival; D004827:Epilepsy / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000150:complications* / Q000235:genetics; D016896:Treatment Outcome
D000927:Anticonvulsants; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2