| Abnormal Weakening of DNA Methylation around the SLC6A1 Gene Promoter in Temporal Lobe Epilepsy. | Abnormal Weakening of DNA Methylation around the SLC6A1 Gene Promoter in Temporal Lobe Epilepsy.
Tao H, Wu Z, Liu Y, Zhang X, Li K, Zhou X. | 10/1/2024 |
| Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder. | Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder.
Dahshi H, Kalvakuntla S, Lee M, Goodspeed K. | 05/28/2024 |
| SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. | SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D., Free PMC Article | 12/15/2023 |
| Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice. | Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice.
Lindquist BE, Voskobiynyk Y, Goodspeed K, Paz JT., Free PMC Article | 10/24/2023 |
| Ketone bodies promote stroke recovery via GAT-1-dependent cortical network remodeling. | Ketone bodies promote stroke recovery via GAT-1-dependent cortical network remodeling.
Lin YH, Yang D, Ni HY, Xu XM, Wu F, Lin L, Chen J, Sun YY, Huang ZQ, Li SY, Jiang PL, Wu HY, Chang L, Hu B, Luo CX, Wu J, Zhu DY. | 10/6/2023 |
| Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study. | Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study.
Kondratyev NV, Alfimova MV, Kaleda VG, Lezheiko TV, Mikhailova VA, Karpov DS, Ublinsky MV, Ushakov VL, Lebedeva IS, Golimbet VE. | 09/7/2023 |
| Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. | Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Piniella D, Canseco A, Vidal S, Xiol C, Díaz de Bustamante A, Martí-Carrera I, Armstrong J, Bastolla U, Zafra F., Free PMC Article | 01/28/2023 |
| Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans. | Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, Shen W, Wang J, Rigsby K, Xu D, Mack T, Nwosu G, Flamm C, Stein M, Kang JQ., Free PMC Article | 09/3/2022 |
| New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Meniere's Disease. | New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière's Disease.
Skarp S, Korvala J, Kotimäki J, Sorri M, Männikkö M, Hietikko E., Free PMC Article | 07/2/2022 |
| Structural basis of GABA reuptake inhibition. | Structural basis of GABA reuptake inhibition.
Motiwala Z, Aduri NG, Shaye H, Han GW, Lam JH, Katritch V, Cherezov V, Gati C., Free PMC Article | 07/2/2022 |
| Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. | Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
Kahen A, Kavus H, Geltzeiler A, Kentros C, Taylor C, Brooks E, Green Snyder L, Chung W. | 06/11/2022 |
| Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons. | Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F, Poliquin S, Rigsby K, Rastogi A, Shen W, Romero-Morales A, Nwosu G, McGrath P, Demerast S, Aoto J, Bilousova G, Lal D, Gama V, Kang JQ., Free PMC Article | 12/18/2021 |
| Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD. | Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD.
Poliquin S, Hughes I, Shen W, Mermer F, Wang J, Mack T, Xu D, Kang JQ., Free PMC Article | 10/16/2021 |
| Molecular Dynamic Simulations to Probe Stereoselectivity of Tiagabine Binding with Human GAT1. | Molecular Dynamic Simulations to Probe Stereoselectivity of Tiagabine Binding with Human GAT1.
Zafar S, Jabeen I., Free PMC Article | 03/28/2021 |
| Overexpression of SLC6A1 associates with drug resistance and poor prognosis in prostate cancer. | Overexpression of SLC6A1 associates with drug resistance and poor prognosis in prostate cancer.
Chen C, Cai Z, Zhuo Y, Xi M, Lin Z, Jiang F, Liu Z, Wan Y, Zheng Y, Li J, Zhou X, Zhu J, Zhong W., Free PMC Article | 01/9/2021 |
| GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy. | GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.
Schijns OE, Bisschop J, Rijkers K, Dings J, Vanherle S, Lindsey P, Smeets HJ, Hoogland G. | 12/12/2020 |
| Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. | Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I., Free PMC Article | 12/5/2020 |
| We highlight strong evidence that mutations in SLC6A1...confer a high risk for schizophrenia | De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.
Rees E, Han J, Morgan J, Carrera N, Escott-Price V, Pocklington AJ, Duffield M, Hall LS, Legge SE, Pardiñas AF, Richards AL, Roth J, Lezheiko T, Kondratyev N, Kaleda V, Golimbet V, Parellada M, González-Peñas J, Arango C, GROUP Investigators, Gawlik M, Kirov G, Walters JTR, Holmans P, O'Donovan MC, Owen MJ., Free PMC Article | 04/18/2020 |
| Study results revealed that lower SLC6A1 expression indicated longer survival time and higher survival rate. MiR-200c-3p could directly target at SLC6A1 and reduce its expression. MiR-200c-3p inhibited the proliferation, migration and invasion in 786-O cells by down-regulating SLC6A1 expression. | MiR-200c-3p inhibits cell migration and invasion of clear cell renal cell carcinoma via regulating SLC6A1.
Maolakuerban N, Azhati B, Tusong H, Abula A, Yasheng A, Xireyazidan A., Free PMC Article | 04/6/2019 |
| This study demonstrated that SLC6A1 is an important contributor to childhood epilepsy and that reduced GAT-1 function is a common consequence of epilepsy-causing SLC6A1 variants. | SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.
Mattison KA, Butler KM, Inglis GAS, Dayan O, Boussidan H, Bhambhani V, Philbrook B, da Silva C, Alexander JJ, Kanner BI, Escayg A. | 02/16/2019 |
| Most patients carrying pathogenic SLC6A1 variants have an myoclonic atonic epilepsy phenotype with language delay and mild/moderate intellectual disability before epilepsy onset. However, intellectual disability alone or associated with focal epilepsy can also be observed. | Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS., Free PMC Article | 10/27/2018 |
| results suggest that selected SLC6A1 gene variants may have a significant effect on the ADHD risk. | SLC6A1 gene involvement in susceptibility to attention-deficit/hyperactivity disorder: A case-control study and gene-environment interaction.
Yuan FF, Gu X, Huang X, Zhong Y, Wu J. | 03/10/2018 |
| the "extra" residue in transmembrane domain 10 of the GABA transporter GAT-1 provides extra bulk, probably in the form of a pi-helix, which is required for stringent gating and tight coupling of ion and substrate fluxes in the GABA transporter family. | An Extra Amino Acid Residue in Transmembrane Domain 10 of the γ-Aminobutyric Acid (GABA) Transporter GAT-1 Is Required for Efficient Ion-coupled Transport.
Dayan O, Nagarajan A, Shah R, Ben-Yona A, Forrest LR, Kanner BI., Free PMC Article | 06/24/2017 |
| Results show that SLC6A1 minor genotypes/alleles were protective against risk for alcoholism in 3 ethnically diverse cohorts. | GABBR1 and SLC6A1, Two Genes Involved in Modulation of GABA Synaptic Transmission, Influence Risk for Alcoholism: Results from Three Ethnically Diverse Populations.
Enoch MA, Hodgkinson CA, Shen PH, Gorodetsky E, Marietta CA, Roy A, Goldman D., Free PMC Article | 10/8/2016 |
| Protein expression as assessed by Western blot showed that GABA-transporter 1 was equally expressed in mild and severe hippocampal sclerosis | Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.
Schijns O, Karaca Ü, Andrade P, de Nijs L, Küsters B, Peeters A, Dings J, Pannek H, Ebner A, Rijkers K, Hoogland G. | 07/2/2016 |