Resources for SLC6A1 research
This page brings together selected resources for researchers working on SLC6A1-NDD, including data and biospecimens, experimental models, variant and functional data, and opportunities for collaboration across Europe.
On this page
Data and biospecimens · Experimental models and cell resources · Variant data ·
European research groups · Collaboration
Data and biospecimens
Several external platforms collect clinical data and biospecimens relevant to SLC6A1 research. Access procedures are determined by each data holder. SLC6A1 Europe can help researchers identify relevant resources and, where possible, facilitate contact with the responsible organisations.
Danish Epilepsy Centre, Filadelfia
The Danish Epilepsy Centre has coordinated international SLC6A1 data collections and has hosted clinical, neurophysiological and genetic information in REDCap.
Some harmonised clinical and genetic data are represented in the SLC6A1 Portal, but the Portal does not replace the underlying research datasets. Access to more detailed or study-specific data may be considered through direct collaboration and is subject to participant consent, ethical approval and institutional data-governance requirements.
Researchers may contact SLC6A1 Europe to discuss a data request or possible collaboration with the Danish research team.
Experimental models and cell resources
Several in vivo and in vitro resources have been developed for SLC6A1 research. Current availability, associated phenotypic information and transfer conditions should be confirmed directly with the repository or originating laboratory.
Mouse models
Slc6a1 knockout mouse
— available through the MMRRC, stock 000426-UCD.
Available non-mammalian models
The resources listed below are publicly available through established repositories. Their degree of disease-specific validation varies, and researchers should consult the linked repository information and relevant publications when selecting a model.
Zebrafish slc6a1a and slc6a1b alleles
Several zebrafish alleles affecting slc6a1a or slc6a1b are available through ZIRC and/or the European Zebrafish Resource Center. These include predicted premature-stop and splice-site alleles.
They provide accessible starting points for functional studies but have not yet been fully characterised as models of SLC6A1-related neurodevelopmental disorder.
Drosophila Gat resources
Gat is the principal high-scoring Drosophila orthologue of human SLC6A1 and is expressed primarily in astrocytes.
Two publicly available Gat lines have been used in studies of SLC6A1 function and variant interpretation:
Additional Gat loss-of-function, RNA interference and expression resources can be found through the FlyBase Gat gene page.
C. elegans snf-11 strains
The C. elegans gene snf-11 is orthologous to human SLC6A1 and encodes a sodium- and chloride-dependent GABA transporter. Functional studies have demonstrated its role in GABA uptake and synaptic GABA clearance.
Two putative loss-of-function strains are publicly available:
-
RM2710 snf-11(ok156) — Caenorhabditis Genetics Center: a 1,491-bp deletion removing exons 3 and 4 and most of exon 5.
-
snf-11(tm625) — National BioResource Project: a 529-bp deletion; homozygous animals are viable.
These strains may support studies of conserved GABA-transporter function, synaptic GABA clearance, genetic modifiers and preliminary compound screening. They have not been validated as models of the complete human SLC6A1-NDD phenotype.
Other animal-model research
Additional SLC6A1-related animal models have been developed by academic research groups but are not currently listed as publicly available resources.
At the University of Verona, stable CRISPR knockout zebrafish lines targeting slc6a1a and slc6a1b have been generated for morphological, behavioural and neurophysiological studies and early compound testing.
An additional slc6a1b mutant line was generated as part of the UCSF Epilepsy Zebrafish Project.
Humanised Drosophila models expressing reference human SLC6A1 or disease-associated variants have also been reported. Studied variants include A288V, G443D, G443V, R44Q, S295L, G297R and A334S. These models have been used to investigate protein trafficking, functional rescue, variant interpretation and phenotypic variability.
Availability of these models should be confirmed directly with the originating laboratories. Researchers interested in these projects or seeking relevant introductions may contact us at advocates@slc6a1europe.org.
Further information about these research projects and the models described above is available through the following project pages, databases and publications:
Human cell resources
-
Patient-derived fibroblasts and lymphoblastoid cell lines — selected SLC6A1 samples are available through the Coriell Institute. Coriell currently lists four SLC6A1-associated cell lines: fibroblast lines GM27899, GM28102 and GM27388, and the lymphoblastoid line GM27387. GM27387 and GM27388 are paired lines from the same individual. GM27899 also carries a pathogenic TRIO variant; researchers should therefore review the individual catalogue records before selecting a line.
Patient-derived dental-pulp neuronal models, Alicante, Spain
The Institute for Neurosciences in Alicante (CSIC–UMH), led by Salvador Martínez, is developing patient-specific neuronal models from cells isolated from naturally shed deciduous teeth.
SLC6A1 Spain supports an SLC6A1-specific application of this approach.
The programme is currently at an early validation stage. A public catalogue of SLC6A1 variants, model characterisation and access conditions is not yet available.
Researchers interested in these models or in a potential collaboration may contact us at advocates@slc6a1europe.org.
Variant and functional data
The following resources support the exploration and interpretation of clinical, genetic, molecular and functional evidence related to SLC6A1 variants. They should be used alongside the relevant primary literature and independent expert assessment.
SLC6A1 Portal
The SLC6A1 Portal brings together clinical, genetic and functional information, including phenotype summaries, functionally tested variants and tools supporting variant interpretation.
ClinVar
ClinVar provides publicly submitted classifications and supporting information for SLC6A1 variants. Classifications may differ between submitters and should not be considered independently from current clinical and functional evidence.
Functional studies
Published functional studies include large-scale GABA-uptake analyses, protein localisation studies and variant-specific investigations in cellular and patient-derived models.
Scientific literature
Current peer-reviewed publications can be accessed through the live SLC6A1 search on PubMed.
Selected European research groups and programmes
SLC6A1 research in Europe is distributed across clinical centres, functional laboratories and translational projects. This selective directory includes groups with publicly documented work directly related to SLC6A1, together with a small number of laboratories investigating GAT‑1 or absence-epilepsy mechanisms of clear relevance to SLC6A1-related neurodevelopmental disorder.
It is not intended as a formal network membership list.
Clinical research, natural history and treatment studies
Danish Epilepsy Centre Filadelfia and University of Southern Denmark — Denmark
The Danish group has made major contributions to the clinical and genetic characterisation of SLC6A1-related disorders in children and adults. Its work includes phenotype definition, inherited variants, adult natural history, genetic counselling and the development of publicly accessible clinical information.
Research at Filadelfia · SLC6A1 Human Disease Gene resource
IR Sant Pau, Hospital de la Santa Creu i Sant Pau — Barcelona, Spain
The Epilepsy Research Group lists SLC6A1 among its priority rare epilepsies. Its research includes natural history, electroclinical and neuroimaging phenotyping, neuropsychological comorbidities, personalised treatment and drug repurposing. The centre coordinated a Spanish multicentre observational study of glycerol phenylbutyrate in paediatric SLC6A1-NDD.
Vall d’Hebron University Hospital and VHIR — Barcelona, Spain
Vall d’Hebron has contributed to clinical genetics and phenotype studies, including research on intrafamilial variability and the presentation of SLC6A1-NDD in adults. This work is particularly relevant to genetic counselling, recognition of mildly affected relatives and the design of inclusive natural-history studies.
Genetics Medicine Research Group · Intrafamilial variability study · Adult phenotype study
IRCCS Istituto Giannina Gaslini and University of Genoa — Genoa, Italy
The Gaslini paediatric neurology group contributes to SLC6A1 clinical-genetic research and exploratory treatment studies. The centre also participates in MOBI-DEE, a broader multi-omic biomarker programme that includes people with SLC6A1-NDD and analyses blood, urine and stool samples.
The group has separately published research on gut-microbiota patterns in paediatric epilepsy. At present, however, no validated microbiome signature specific to SLC6A1-NDD has been published.
Paediatric Neurology Unit · SLC6A1 acetazolamide case series · Paediatric epilepsy microbiome study
Strasbourg University Hospital — Strasbourg, France
The Strasbourg rare-epilepsy centre led a French-speaking SLC6A1 cohort examining developmental, behavioural and epilepsy trajectories. Strasbourg is also participating in the prospective SPIRIT natural-history study.
Rare Epilepsy Centre · French SLC6A1 cohort · SPIRIT study record
Amsterdam UMC, Radboudumc and collaborating Dutch centres — Netherlands
This collaboration conducted a prospective open-label study of glycerol phenylbutyrate using personalised treatment goals alongside seizure, developmental, behavioural and quality-of-life outcomes. The study is small and exploratory, but it provides useful information for trial design and individualised outcome assessment.
Emma Center for Personalized Medicine · Prospective case series
Bambino Gesù Children’s Hospital — Rome, Italy
The rare and complex epilepsy team has published detailed work on cognitive and behavioural comorbidities in SLC6A1-related epilepsy. Its findings support repeated, standardised neuropsychological assessment rather than relying only on seizure outcomes.
Rare and Complex Epilepsy Unit · Clinical and neuropsychological study
Functional and translational research
University of Insubria — Varese, Italy
The Laboratory of Cellular and Molecular Physiology studies the structure and function of SLC6 transporters. Its SLC6A1 work uses heterologous expression, GABA-uptake measurements, electrophysiology and molecular assays to characterise GAT‑1 variants and investigate possible functional rescue.
Electrophysiology Laboratory · SLC6A1/GAT‑1 research project
Sanders Group, University of Oxford — United Kingdom
The Sanders Group investigates the genetic mechanisms underlying neurodevelopmental disorders, including coding and non-coding variation, developmental gene regulation and genome-targeted therapeutic approaches. Its SLC6A1 work provides strong evidence that loss of gene dosage is a central disease mechanism.
Medical University of Vienna — Vienna, Austria
The Vienna group studies how SLC6A1 variants affect GAT‑1 folding, intracellular trafficking, surface expression and transport activity. It uses cellular systems and Drosophila models to investigate variant-specific mechanisms and the potential rescue of selected misfolded proteins by pharmacological or chemical chaperones.
Researcher profile · Funded GAT‑1 project · Selected rescue study
Newcastle University — United Kingdom
An emerging SLC6A1 project is developing patient-specific induced pluripotent stem-cell models, including neurons and glial cells. The proposed work combines electrophysiology, multi-electrode arrays and genetic or pharmacological rescue approaches. The project is at an early stage and SLC6A1-specific results have not yet been published.
University of Verona — Verona, Italy
The Verona group developed an SLC6A1 knockout zebrafish model to investigate neurological and seizure-related phenotypes and to evaluate potential pharmacological treatments. The initial seed-funded project has been completed, while its model and results remain relevant for future screening and replication studies.
Related GAT‑1 and absence-epilepsy research
The following laboratories do not currently present themselves as dedicated SLC6A1 clinical programmes. Their work is nevertheless directly relevant to GAT‑1 biology and to the mechanisms that may connect impaired GABA uptake with absence seizures.
Ana Sebastião Lab, University of Lisbon / GIMM — Lisbon, Portugal
The laboratory studies neuronal communication and synaptic dysfunction, including the regulation of GAT‑1 trafficking and GABA transport by BDNF and adenosine receptors. Its work on neuronal and astrocytic GABA uptake and absence-seizure mechanisms provides useful biological context for SLC6A1-NDD.
Ana Sebastião Lab · BDNF and GAT‑1 trafficking · Adenosine A2A receptors and GAT‑1
Cardiff University — Cardiff, United Kingdom
Research led at Cardiff has established an important mechanistic link between impaired astrocytic GAT‑1 function, increased tonic GABA inhibition in thalamic circuits and experimental absence seizures. This work remains highly relevant to the interpretation of SLC6A1 seizure mechanisms and potential circuit-level endpoints.
Research profile · GAT‑1 dysfunction in experimental absence seizures
Emerging patient-derived model initiative
Institute for Neurosciences UMH–CSIC — Alicante, Spain
Project Sagutxoa is assessing whether cells obtained from donated deciduous teeth can be reprogrammed into patient-derived neurons for the study of rare neurological diseases. The initiative is still at the feasibility stage. It has been presented to the SLC6A1 community, but no SLC6A1-specific dataset or validated model has yet been made publicly available.
Broader European contributors
Multicentre SLC6A1 studies have also involved clinical and genetic teams in Cologne, Leipzig, Rotterdam, London, Madrid, Helsinki, Brussels, Gosselies, Luxembourg and other European centres. Because a continuing dedicated SLC6A1 programme cannot currently be verified publicly for every institution, these contributors are best acknowledged through the collaborative publications rather than presented as separate SLC6A1 laboratories.
International genotype–phenotype and functional study · Intrafamilial variability study
Research collaboration and enquiries
SLC6A1 Europe is a patient-led alliance working with national SLC6A1 organisations. We aim to help researchers navigate the European research landscape and connect with relevant partners, without replacing the formal roles of registries, biobanks, clinical centres or research institutions.
Depending on the nature and stage of a project, we may be able to:
-
facilitate introductions to relevant patient organisations, clinical centres, research groups and resource holders;
-
help identify potentially relevant registries, datasets, biospecimen collections, cell lines or experimental models and direct enquiries to the responsible organisations;
-
contribute patient and caregiver perspectives to research priorities, study design, outcome selection and participant-facing materials;
-
share ethically approved research and recruitment opportunities through national member organisations, where appropriate;
-
consider letters of support or participation in European research consortia.
All requests are considered on a case-by-case basis. SLC6A1 Europe does not grant access to participants, data, biospecimens or experimental resources. Access decisions remain with the responsible organisations and are subject to applicable consent, ethical approval, institutional governance and data-protection requirements.
For research enquiries or to discuss a possible collaboration, please contact us at advocates@slc6a1europe.org.
Last reviewed: October 2026