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Article

Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.

Journal of medical genetics - 1 Jun 2022

Kahen Ashley, Kavus Haluk, Geltzeiler Alexa, Kentros Catherine, Taylor Cora, Brooks Elizabeth, Green Snyder LeeAnne, Chung Wendy

Abstract excerpt

BACKGROUND: SLC6A1 encodes GAT-1, a major gamma-aminobutyric acid (GABA) transporter in the brain. GAT-1 maintains neurotransmitter homeostasis by removing excess GABA from the synaptic cleft. Pathogenic variants in SLC6A1 disrupt the reuptake of GABA and are associated with a neurobehavioural phenotype. METHODS: Medical history interviews, seizure surveys, Vineland Adaptive Behavior Scales Second Edition and...

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Identifiers

PMID: 34006619
DOI: 10.1136/jmedgenet-2021-107694

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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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