Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature

CONCLUSION: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.PMID:38070824 | DOI:10.1016/j.ejmg.2023.104895

Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Yuri Sonoda Atsushi Fujita Michiko Torio Takahiko Mukaino Ayumi Sakata Masaru Matsukura Kousuke Yonemoto Ken Hatae Yuko Ichimiya Pin Fee Chong Masayuki Ochiai Yoshinao Wada Machiko Kadoya Nobuhiko Okamoto Yoshiko Murakami Tadashi Suzuki Noriko Isobe Hiros Source Type: research