Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

Pathogenic truncating variants in SMC1A, which is located on chromosome Xp11.2, are known to cause infantile-onset epilepsy and severe intellectual disability in girls. Several studies have reported a correlation between SMC1A truncations and seizure clustering; however, the associated electroencephalogram (EEG) patterns remain largely unknown.

Source: Brain and Development - May 16, 2022 Category: Neurology Authors: Kazuhiko Hashimoto, Shimpei Baba, Eiji Nakagawa, Noriko Sumitomo, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Takashi Saito, Chihiro Abe-Hatano, Ken Inoue, Aritoshi Iida, Masayuki Sasaki, Yu-ichi Goto Tags: Case Report Source Type: research