title: Epilepsy treatment in Rett syndrome.
abstract: Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was present in 16 of 19 (84%) patients with Rett syndrome in this series. The mean age of seizure onset was 4 years. Remission of seizures was achieved after the first monotherapy in 56% and after the second monotherapy in 18.5% of patients. Valproate, lamotrigine, and carbamazepine were the drugs used most frequently as monotherapy. Valproate monotherapy was highly effective as 75% of treated patients achieved seizure remission. Monotherapy with lamotrigine or carbamazepine was effective in half of the treated patients. There was a clear tendency toward seizure remission after the age of 15 years.
authors.affiliation: University Children's Hospital, Department of Child, Adolescent and Developmental Neurology, Ljubljana, Slovenia. natalija.krajnc@mf.uni-lj.si
authors.forename: Natalija
authors.initials: N
authors.lastname: Krajnc
authors.forename: Neža
authors.initials: N
authors.lastname: Župančič
authors.forename: Jasna
authors.initials: J
authors.lastname: Oražem
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation / Q000235:genetics; D015518:Rett Syndrome / Q000150:complications*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D051783:Methyl-CpG-Binding Protein 2