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Article

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Epilepsia - 1 Mar 2022

Koko Mahmoud, Motelow Joshua E, Stanley Kate E, Bobbili Dheeraj R, Dhindsa Ryan S, May Patrick

Abstract excerpt

OBJECTIVE: We aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE. METHODS: We performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, GABA-A

Source

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Identifiers

PMID: 35032048
DOI: 10.1111/epi.17166
PMCID: PMC8891088

Genes

GABRG2

Provenance

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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