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Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.

Seizure - 1 Dec 2022

Leng Xuerong, Zhang Tiantian, Guan Yanping, Tang Mengmeng

Abstract excerpt

OBJECTIVE: To investigate the genotype and phenotype of epilepsy caused by ADGRV1 variants in Chinese children. METHODS: A total of 625 patients with epilepsy who had undergone whole-exon gene sequencing or epilepsy and related paroxysmal disease gene panel sequencing were recruited. Variants were evaluated for susceptibility pathogenicity based on their frequency in the Genome Aggregation Database (≤ 0.001). We...

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Identifiers

PMID: 36399868
DOI: 10.1016/j.seizure.2022.11.005

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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