ReviewBrain communications2020
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Review in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 97 citations in OpenAlex.
- Oral Actinomyces Species Exposure is Associated with Anxiety-Like Behavior, Mitochondrial Remodeling, and Altered GABAergic Pathways.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Zebrafish behavioral phenomics reveals functional subtypes of autism risk genes.Molecular psychiatry · 2026Article
- Beyond Seizure Management in a Developmental Epileptic Encephalopathy: Expanding the SLC6A1 Neurodevelopmental Disorder Phenotype.Neurology. Genetics · 2026Article
- Single-nucleus transcriptomic analysis reveals subfield-specific cell-to-cell synaptic reorganisation of the mouse hippocampus in focal temporal lobe epilepsy.Journal of translational medicine · 2026Article
- Solute carrier membrane transporters: emerging targets in CNS disorders.Nature reviews. Drug discovery · 2026Review
- Unraveling 4-Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition.Annals of clinical and translational neurology · 2026Article
- Delta Power in SLC6A1-Related Neurodevelopmental Disorder: Operationalizing Quantitative EEG Metrics for Biomarker Development.Neurology international · 2026Article
- 4-Phenylbutyrate rescues neurobehavioral phenotypes in SLC6A1-related encephalopathy.Epilepsy research · 2026Article
- Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.Cell reports · 2026Article
- Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice ofbioRxiv : the preprint server for biology · 2026Article
- Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.Brain communications · 2026Article
- E4BP4-Driven Circadian SLC6A1 Expression Governs Tiagabine Chronoefficacy in Temporal Lobe Epilepsy.Molecular neurobiology · 2025Article
- Pharmacogenetics of anti-seizure medications in Arab countries: a comprehensive review.Future science OA · 2025Review
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series.Epilepsia open · 2025Article
- Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia.Developmental medicine and child neurology · 2025Review
- Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Modeling combinatorial regulation from single-cell multi-omics provides regulatory units underpinning cell type landscape using cRegulon.Genome biology · 2025Article
- Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.Orphanet journal of rare diseases · 2025Article
- Article
Corrections and comments
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Authors and funding
22 authors at 13 institutions in 5 countries.
Funding
Abstract
Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder and intellectual disability. The solute carrier family 6 member 1 gene encodes for the GABA transporter protein type 1, which is responsible for the reuptake of the neurotransmitter GABA, the primary inhibitory neurotransmitter in the central nervous system, from the extracellular space. GABAergic inhibition is essential to counterbalance neuronal excitation, and when significantly disrupted, it negatively impacts brain development leading to developmental differences and seizures. Aggregation of patient variants and observed clinical manifestations expand understanding of the genotypic and phenotypic spectrum of this disorder. Here, we assess genetic and phenotypic features in 116 individuals with solute carrier family 6 member 1 variants, the vast majority of which are likely to lead to GABA transporter protein type 1 loss-of-function. The knowledge acquired will guide therapeutic decisions and the development of targeted therapies that selectively enhance transporter function and may improve symptoms. We analysed the longitudinal and cell type-specific expression of solute carrier family 6 member 1 in humans and localization of patient and control missense variants in a novel GABA transporter protein type 1 protein structure model. In this update, we discuss the progress made in understanding and treating solute carrier family 6 member 1-related disorders thus far, through the concerted efforts of clinicians, scientists and family support groups.
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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.