A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation

MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene.

Source: Brain and Development - August 5, 2023 Category: Neurology Authors: Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi Tags: Case Report Source Type: research