An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation

摘要

BackgroundThe clinical spectrum of Rett syndrome (RTT; Mendelian Inheritance in Man [MIM] #312750) in males is considered to be wider than previously expected. Therefore, the existence of RTT with a normal male karyotype is still controversial. Here, we report the first case of a male patient presenting with an early seizure type of Rett‐like phenotypes with a missense variant of MECP2.