Authors:
Bao X; Downs J; Wong K; Williams S; Leonard H
Authors notes:
Developmental Medicine and Child Neurology. 2013;55(6):553-558
Keywords:
Rett Syndrome, Epilepsy, InterRett, Genotype
Abstract:
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Among them, 61% had epilepsy, with half diagnosed by the age of 5 years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset.
The highest rate of active epilepsy (54%) was in those aged 12 to 17 years.
Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion or p.T158M.
Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%).
Genotype influences the age at onset and severity of epilepsy in RTT.
Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype