{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC6A1 encodes GABA transporter‐1 (GAT‐1), a key membrane protein that clears the inhibitory neurotransmitter GABA from the synaptic cleft to regulate neuronal excitability. Electrophysiological and biochemical studies have established that GAT‐1 mediates sodium‐ and chloride‐dependent uptake of GABA, controlling its ambient concentration and thereby modulating a range of fast and slower inhibitory signals across the nervous system. Detailed functional analyses—including measurements of transport currents, ion/substrate stoichiometry, and real‐time turnover rate—have provided a robust framework for understanding how GAT‐1 sustains efficient synaptic transmission (see, for example."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nStructural and trafficking studies have further delineated the molecular underpinnings of GAT‐1 function. Mutagenesis and cysteine‐scanning experiments have identified critical residues in transmembrane domains and extracellular loops that govern substrate binding, gating, and oligomerization. For instance, specific motifs in the carboxyl terminus are necessary for the recruitment of COPII coat proteins during endoplasmic reticulum export, while transmembrane domains (notably TM2, TM8, and TM10) shape the permeation pathway and control ion coupling. Furthermore, analyses of oligomer formation have revealed that precise interhelical interactions are required for proper trafficking and surface expression of GAT‐1 (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic studies have highlighted that pathogenic variants in SLC6A1 are associated with a wide spectrum of neurodevelopmental and neuropsychiatric conditions—including various epilepsy syndromes, intellectual disability, attention‐deficit/hyperactivity disorder, anxiety disorders, and schizophrenia—as well as with alterations in cancer cell behavior. Clinically relevant mutations often impair GAT‐1 function by reducing cell surface expression through protein misfolding or disrupted trafficking, while other regulatory changes (such as promoter variants and microRNA‐mediated modulation) impact its expression levels in both neural and non‐neural tissues. These findings underscore that variations in SLC6A1 not only affect GABA reuptake and synaptic inhibition but also modulate downstream network excitability and plasticity, with emerging roles in shaping responses to pharmacological agents. Collectively, these genetic and mechanistic insights pave the way for targeted therapeutic strategies and refined biomarker development (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "32"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "Transmembrane domain I of the gamma-aminobutyric acid transporter GAT-1 plays a crucial role in the transition between cation leak and transport modes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M210525200"}], "href": "https://doi.org/10.1074/jbc.M210525200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12446715"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12446715"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yonggang Zhou, Estelle R Bennett, Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "The aqueous accessibility in the external half of transmembrane domain I of the GABA transporter GAT-1 Is modulated by its ligands."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M311579200"}], "href": "https://doi.org/10.1074/jbc.M311579200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14744863"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14744863"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "M C Inda, J Defelipe, A Muñoz "}, {"type": "b", "children": [{"type": "t", "text": "The distribution of chandelier cell axon terminals that express the GABA plasma membrane transporter GAT-1 in the human neocortex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cereb Cortex (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/cercor/bhl114"}], "href": "https://doi.org/10.1093/cercor/bhl114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17099065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17099065"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Albert L Gonzales, William Lee, Shelly R Spencer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Turnover rate of the gamma-aminobutyric acid transporter GAT1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Membr Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00232-007-9073-5"}], "href": "https://doi.org/10.1007/s00232-007-9073-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17994179"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17994179"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Gemma L Carvill, Jacinta M McMahon, Amy Schneider, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2015.02.016"}], "href": "https://doi.org/10.1016/j.ajhg.2015.02.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25865495"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25865495"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zenia Motiwala, Nanda Gowtham Aduri, Hamidreza Shaye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis of GABA reuptake inhibition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41586-022-04814-x"}], "href": "https://doi.org/10.1038/s41586-022-04814-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35676483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35676483"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Elia Zomot, Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "The interaction of the gamma-aminobutyric acid transporter GAT-1 with the neurotransmitter is selectively impaired by sulfhydryl modification of a conformationally sensitive cysteine residue engineered into extracellular loop IV."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M209307200"}], "href": "https://doi.org/10.1074/jbc.M209307200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12925537"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12925537"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Vladimir M Korkhov, Hesso Farhan, Michael Freissmuth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oligomerization of the {gamma}-aminobutyric acid transporter-1 is driven by an interplay of polar and hydrophobic interactions in transmembrane helix II."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M409449200"}], "href": "https://doi.org/10.1074/jbc.M409449200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15496410"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15496410"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Elia Zomot, Yonggang Zhou, Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "Proximity of transmembrane domains 1 and 3 of the gamma-aminobutyric acid transporter GAT-1 inferred from paired cysteine mutagenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M503864200"}], "href": "https://doi.org/10.1074/jbc.M503864200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15905165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15905165"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hesso Farhan, Veronika Reiterer, Vladimir M Korkhov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Concentrative export from the endoplasmic reticulum of the gamma-aminobutyric acid transporter 1 requires binding to SEC24D."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M609720200"}], "href": "https://doi.org/10.1074/jbc.M609720200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17210573"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17210573"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Vladimir M Korkhov, Laura Milan-Lobo, Benoît Zuber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peptide-based interactions with calnexin target misassembled membrane proteins into endoplasmic reticulum-derived multilamellar bodies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2008.02.056"}], "href": "https://doi.org/10.1016/j.jmb.2008.02.056"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18367207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18367207"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Assaf Ben-Yona, Annie Bendahan, Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "A glutamine residue conserved in the neurotransmitter:sodium:symporters is essential for the interaction of chloride with the GABA transporter GAT-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.149732"}], "href": "https://doi.org/10.1074/jbc.M110.149732"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21098479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21098479"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Søren Skovstrup, Laurent David, Olivier Taboureau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A steered molecular dynamics study of binding and translocation processes in the GABA transporter."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0039360"}], "href": "https://doi.org/10.1371/journal.pone.0039360"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22737235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22737235"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Maram Hilwi, Oshrat Dayan, Baruch I Kanner "}, {"type": "b", "children": [{"type": "t", "text": "Conformationally sensitive proximity of extracellular loops 2 and 4 of the γ-aminobutyric acid (GABA) transporter GAT-1 inferred from paired cysteine mutagenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.593061"}], "href": "https://doi.org/10.1074/jbc.M114.593061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25339171"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25339171"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Oshrat Dayan, Anu Nagarajan, Raven Shah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "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."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M117.775189"}], "href": "https://doi.org/10.1074/jbc.M117.775189"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28213519"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28213519"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Rungnapa Hirunsatit, Risto Ilomäki, Robert Malison, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2156-8-71"}], "href": "https://doi.org/10.1186/1471-2156-8-71"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17941974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17941974"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "C K Thoeringer, S Ripke, P G Unschuld, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The GABA transporter 1 (SLC6A1): a novel candidate gene for anxiety disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm (Vienna) (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00702-008-0075-y"}], "href": "https://doi.org/10.1007/s00702-008-0075-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18607529"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18607529"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Jessica Lasky-Su, Benjamin M Neale, Barbara Franke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.30867"}], "href": "https://doi.org/10.1002/ajmg.b.30867"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18821565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18821565"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Rungnapa Hirunsatit, Elizabeth D George, Barbara K Lipska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/FPC.0b013e328318b21a"}], "href": "https://doi.org/10.1097/FPC.0b013e328318b21a"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19077666"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19077666"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Guillermo Gonzalez-Burgos "}, {"type": "b", "children": [{"type": "t", "text": "GABA transporter GAT1: a crucial determinant of GABAB receptor activation in cortical circuits?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Pharmacol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S1054-3589(10)58008-6"}], "href": "https://doi.org/10.1016/S1054-3589(10"}, {"type": "t", "text": "58008-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20655483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20655483"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defining the phenotypic spectrum of SLC6A1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.13986"}], "href": "https://doi.org/10.1111/epi.13986"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29315614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29315614"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Naibijiang Maolakuerban, Baihetiya Azhati, Hamulati Tusong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-200c-3p inhibits cell migration and invasion of clear cell renal cell carcinoma via regulating SLC6A1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Biol Ther (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15384047.2017.1394551"}], "href": "https://doi.org/10.1080/15384047.2017.1394551"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29394133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29394133"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Kari A Mattison, Kameryn M Butler, George Andrew S Inglis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.14531"}], "href": "https://doi.org/10.1111/epi.14531"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30132828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30132828"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Elliott Rees, Jun Han, Joanne Morgan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41593-019-0565-2"}], "href": "https://doi.org/10.1038/s41593-019-0565-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31932766"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31932766"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Chaojiang Chen, Zhiduan Cai, Yangjia Zhuo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of SLC6A1 associates with drug resistance and poor prognosis in prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12885-020-06776-7"}], "href": "https://doi.org/10.1186/s12885-020-06776-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32252682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32252682"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Olaf Emg Schijns, Jeroen Bisschop, Kim Rijkers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epileptic Disord (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1684/epd.2020.1154"}], "href": "https://doi.org/10.1684/epd.2020.1154"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32301730"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32301730"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Peter D Galer, Shiva Ganesan, David Lewis-Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2020.08.003"}], "href": "https://doi.org/10.1016/j.ajhg.2020.08.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32853554"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32853554"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Sarah Poliquin, Inna Hughes, Wangzhen Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Neurol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.expneurol.2021.113723"}], "href": "https://doi.org/10.1016/j.expneurol.2021.113723"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33961861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33961861"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Felicia Mermer, Sarah Poliquin, Kathryn Rigsby, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awab207"}], "href": "https://doi.org/10.1093/brain/awab207"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34028503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34028503"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Sini Skarp, Johanna Korvala, Jouko Kotimäki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New Genetic Variants in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "CYP2B6"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC6A"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Support the Role of Oxidative Stress in Familial Ménière's Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes13060998"}], "href": "https://doi.org/10.3390/genes13060998"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35741759"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35741759"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Yu-Hui Lin, Di Yang, Huan-Yu Ni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ketone bodies promote stroke recovery via GAT-1-dependent cortical network remodeling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2023.112294"}], "href": "https://doi.org/10.1016/j.celrep.2023.112294"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36947544"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36947544"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awad292"}], "href": "https://doi.org/10.1093/brain/awad292"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37647852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37647852"}]}]}]}