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Article

Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAA receptors and GABA transporter 1.

Epilepsia open - 1 Jun 2026

Wang Juexin, Kang Jing-Qiong

Abstract excerpt

This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT-1) encoded by SLC6A1. About 1000 genes are associated with epilepsy, including ~100 directly linked to defined epilepsy syndromes. Many disease-causing variants affect ion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42101103
DOI: 10.1002/epi4.70259
PMCID: PMC13238845

Genes

SLC6A1
GABRG2

Provenance

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

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