ArticleAmerican journal of human genetics2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 1 of them a synthesis that pooled it.
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Who cites it
117 citing papers in PubMed, 1 synthesis or guideline pooled it, 223 citations in OpenAlex.
- Exploring the landscape of developmental and epileptic encephalopathies and gene research global dynamics via bibliometric study 2001-2025.Frontiers in neurology · 2025Pooled it
- Beyond Seizure Management in a Developmental Epileptic Encephalopathy: Expanding the SLC6A1 Neurodevelopmental Disorder Phenotype.Neurology. Genetics · 2026Article
- SVHRSP Attenuates PTZ-Induced Seizure-Like Behavior in C. elegans: Involvement of HSF-1 and Associated Changes in GABAergic Markers and Mitochondrial Homeostasis.Neurochemical research · 2026Article
- Solute carrier membrane transporters: emerging targets in CNS disorders.Nature reviews. Drug discovery · 2026Review
- Article
- 4 Phenylbutyrate Plus Gene augmentation: A Dual Therapy To Rescue of SLC6A1 Variant Associated Developmental And Epileptic Encephalopathy.bioRxiv : the preprint server for biology · 2026Article
- Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAEpilepsia open · 2026Review
- Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.Journal of human genetics · 2026Article
- Uncovering Spatiotemporal and Functional Dynamics of Long Non-coding RNAs During Alzheimer's Progression in the Human Brain at Single-Cell Resolution.Molecular neurobiology · 2026Article
- Article
- Delta Power in SLC6A1-Related Neurodevelopmental Disorder: Operationalizing Quantitative EEG Metrics for Biomarker Development.Neurology international · 2026Article
- Neurotransmitter regulatory networks in persistent postural-perceptual dizziness: potential mechanisms and therapeutic implications.Frontiers in neurology · 2026Review
- Association of CYP3A4*1B and SLC6A11 Genetic Variants with Epilepsy Risk And Antiepileptic Drug Response in an Iraqi Population.Molecular neurobiology · 2025Article
- Article
- Computational Analysis of GAT1 Mutations: Functional Consequences from Molecular Dynamics and Binding Free Energy Calculations.International journal of molecular sciences · 2025Article
- Human Medial Ganglionic Eminence Organoids Robustly Generate Parvalbumin Interneurons and Fast-Spiking Neurons and Reveal Migratory Deficits inbioRxiv : the preprint server for biology · 2025Article
- High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene,bioRxiv : the preprint server for biology · 2025Article
- Recurrent neonatal seizures increase tonic inhibition and respond to enhancers of δ-containing GABAA receptors.JCI insight · 2025Article
- Demyelination-induced glutamatergic imbalance mediates hippocampal Hyperexcitability.Neurobiology of disease · 2025Article
- Role of hippocampus in epileptogenesis: new insights in the cross-talks between the underlying mechanisms.Acta neurologica Belgica · 2025Review
57 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 12 institutions in 8 countries.
Funding
Abstract
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 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ~4% of unsolved MAE cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.