Associated Papers
4-Phenylbutyrate rescues neurobehavioral phenotypes in SLC6A1-related encephalopathy.
Randhave K et al.
Epilepsy Research, 2026
Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of SLC6A1 Variant-Mediated Disorders.
Zavalin K et al.
Biorxiv : the Preprint Server for Biology, 2026
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Jay KL et al.
Hgg Advances, 2026
Axon initial segment damage and hyperexcitability in a mutant mouse with increased calpain-dependent cleavage of αII-Spectrin.
Hobbib RL et al.
Neurobiology of Disease, 2025
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1.
McGraw CM et al.
Biorxiv : the Preprint Server for Biology, 2025
Phenylbutyrate for monogenetic epilepsy: Literature review.
Stone A et al.
Epilepsy Research, 2025
Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders.
Loukil A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
γ-Aminobutyric Acid Transporter Mutation GAT1 (S295L) Substantially Impairs Neurogenesis in Dentate Gyrus.
Liu W et al.
Brain Sciences, 2025
4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients.
DeLeeuw MB et al.
Epilepsy Research, 2025
Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAA receptors and GABA transporter 1.
Kang JQ et al.
Frontiers in Molecular Neuroscience, 2025
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome.
Shen W et al.
Epilepsia, 2024
γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies.
Shen W et al.
Brain Communications, 2024
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A et al.
Brain : a Journal of Neurology, 2023
Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice.
Lindquist BE et al.
Epilepsia, 2023
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Piniella D et al.
International Journal of Molecular Sciences, 2023
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.
Kalvakuntla S et al.
Frontiers in Neuroscience, 2023
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Trivisano M et al.
Frontiers in Neuroscience, 2023
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F et al.
Neurobiology of Disease, 2022
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Bain JM et al.
Journal of Neurodevelopmental Disorders, 2022
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
Kahen A et al.
Journal of Medical Genetics, 2022
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.
Fischer FP et al.
Frontiers in Molecular Biosciences, 2022
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models.
Nwosu G et al.
Brain Communications, 2022
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F et al.
Brain : a Journal of Neurology, 2021
Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.
Cheng JZ et al.
Brain : a Journal of Neurology, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K et al.
Brain Communications, 2020
SLC6A1 patient & organization perspective: founding of SLC6A1 connect, research, and ongoing efforts.
Tiller J et al.
Therapeutic Advances in Rare Disease, 0