Cani Ilaria, Muccioli Lorenzo, Mignani Francesco, Licchetta Laura, Tinuper Paolo, Provini Federica, Bisulli Francesca
Department of Biomedical and NeuroMotor Sciences, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Epilepsy Behav Rep. 2022 Apr 19;19:100541. doi: 10.1016/j.ebr.2022.100541. eCollection 2022.
MECP2 duplication syndrome (MDS) is a rare and severe neurodevelopmental disorder frequently associated with epilepsy. Different seizure types and electroencephalographic (EEG) patterns were described in patients with MDS, although it lacks a specific phenotype. We report on an adult patient with long-term epilepsy showing an evolution of the EEG pattern that progressively changed into burst suppression (BS) during sleep. As BS has not been previously reported in MDS, this report expands the neurophysiological phenotype of MDS and further suggest the possible occurrence of a longitudinal spectrum of seizure types and EEG patterns in MDS.
甲基化CpG结合蛋白2重复综合征（MDS）是一种罕见且严重的神经发育障碍，常与癫痫相关。尽管MDS缺乏特定的表型，但已有研究描述了MDS患者的不同癫痫发作类型和脑电图（EEG）模式。我们报告了一名患有长期癫痫的成年患者，其EEG模式在睡眠期间逐渐演变为爆发抑制（BS）。由于此前尚未在MDS中报道过BS，本报告扩展了MDS的神经生理表型，并进一步提示MDS可能存在癫痫发作类型和EEG模式的纵向谱系。
