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

doi:10.1016/j.ejmg.2023.104895

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Article

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

European journal of medical genetics - 1 Feb 2024

Sonoda Yuri, Fujita Atsushi, Torio Michiko, Mukaino Takahiko, Sakata Ayumi, Matsukura Masaru, Yonemoto Kousuke, Hatae Ken, Ichimiya Yuko, Chong Pin Fee, Ochiai Masayuki, Wada Yoshinao, Kadoya Machiko, Okamoto Nobuhiko, Murakami Yoshiko, Suzuki Tadashi, Isobe Noriko, Shigeto Hiroshi, Matsumoto Naomichi, Sakai Yasunari, Ohga Shouichi

Abstract excerpt

INTRODUCTION: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive. CASE PRESENTATION: A Japanese boy with delayed...

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PMID: 38070824
DOI: 10.1016/j.ejmg.2023.104895

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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