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Article

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

American journal of human genetics - 7 May 2015

Carvill Gemma L, McMahon Jacinta M, Schneider Amy, Zemel Matthew, Myers Candace T, Saykally Julia, Nguyen John, Robbiano Angela, Zara Federico, Specchio Nicola, Mecarelli Oriano, Smith Robert L, Leventer Richard J, Møller Rikke S, Nikanorova Marina, Dimova Petia, Jordanova Albena, Petrou Steven, Helbig Ingo, Striano Pasquale, Weckhuysen Sarah, Berkovic Samuel F, Scheffer Ingrid E, Mefford Heather C

Abstract excerpt

GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutatio...

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Share to Epilepsies, Myoclonic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25865495
DOI: 10.1016/j.ajhg.2015.02.016
PMCID: PMC4570550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25865495-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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