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Article

Genotype and phenotype spectrum of epilepsy patients with congenital disorders of glycosylation associated with GPAA1 variants.

Seizure - 1 May 2026

Ouyang Shijia, Wang Ting, Tian Xiaojuan, Dong Zeyong, Tan Quanzhen, Yang Ying, Yang Xiaoling, Zhang Yuehua

Abstract excerpt

OBJECTIVE: To delineate the genotype and phenotype of epilepsy patients with GPAA1-related congenital disorders of glycosylation (CDG). METHODS: Whole-exome sequencing was performed to all epilepsy patients suspected with genetic etiology from June 2017 to October 2025. Clinical data of five patients with GPAA1 variants from our study and 19 patients from published studies were collected and analyzed. RESULTS:...

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Identifiers

PMID: 42001530
DOI: 10.1016/j.seizure.2026.03.018

Genes

GPAA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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