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Article

SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.

Epilepsia - 1 Sept 2018

Mattison Kari A, Butler Kameryn M, Inglis George Andrew S, Dayan Oshrat, Boussidan Hanna, Bhambhani Vikas, Philbrook Bryan, da Silva Cristina, Alexander John J, Kanner Baruch I, Escayg Andrew

Abstract excerpt

Previous reports have identified SLC6A1 variants in patients with generalized epilepsies, such as myoclonic-atonic epilepsy and childhood absence epilepsy. However, to date, none of the identified SLC6A1 variants has been functionally tested for an effect on GAT-1 transporter activity. The purpose of this study was to determine the incidence of SLC6A1 variants in 460 unselected epilepsy patients and to evaluate...

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PMID: 30132828
DOI: 10.1111/epi.14531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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