{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T03:35:26Z","timestamp":1778297726854,"version":"3.51.4"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T00:00:00Z","timestamp":1721347200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["217199\/Z\/19\/Z"],"award-info":[{"award-number":["217199\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001349","name":"Singapore National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CIRG\/1438\/ 2015"],"award-info":[{"award-number":["NMRC\/CIRG\/1438\/ 2015"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009245","name":"Singapore Ministry of Education Academic Research","doi-asserted-by":"publisher","award":["2015-T2-1-023"],"award-info":[{"award-number":["2015-T2-1-023"]}],"id":[{"id":"10.13039\/501100009245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009245","name":"Singapore Ministry of Education Academic Research","doi-asserted-by":"publisher","award":["098330\/Z\/12\/Z"],"award-info":[{"award-number":["098330\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/501100009245","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>GABABRs are key membrane proteins that continually adapt the excitability of the nervous system. These G-protein coupled receptors are activated by the brain's premier inhibitory neurotransmitter GABA. They are obligate heterodimers composed of GABA-binding GABABR1 and G-protein-coupling GABABR2 subunits. Recently, three variants (G693W, S695I, I705N) have been identified in the gene (GABBR2) encoding for GABABR2. Individuals that harbour any of these variants exhibit severe developmental epileptic encephalopathy and intellectual disability, but the underlying pathogenesis that is triggered in neurons remains unresolved.<\/jats:p>\n               <jats:p>Using a range of confocal imaging, flow cytometry, structural modelling, biochemistry, live cell Ca2+ imaging of presynaptic terminals, whole-cell electrophysiology of human embryonic kidney (HEK)-293 T cells and neurons and two-electrode voltage clamping of Xenopus oocytes, we have probed the biophysical and molecular trafficking and functional profiles of G693W, S695I and I705N variants.<\/jats:p>\n               <jats:p>We report that all three point mutations impair neuronal cell surface expression of GABABRs, reducing signalling efficacy. However, a negative effect evident for one variant perturbed neurotransmission by elevating presynaptic Ca2+ signalling. This is reversed by enhancing GABABR signalling via positive allosteric modulation.<\/jats:p>\n               <jats:p>Our results highlight the importance of studying neuronal receptors expressed in nervous system tissue and provide new mechanistic insights into how GABABR variants can initiate neurodevelopmental disease whilst highlighting the translational suitability and therapeutic potential of allosteric modulation for correcting these deficits.<\/jats:p>","DOI":"10.1093\/brain\/awae232","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T17:09:59Z","timestamp":1721408999000},"page":"533-548","source":"Crossref","is-referenced-by-count":10,"title":["Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant"],"prefix":"10.1093","volume":"148","author":[{"given":"Marielle","family":"Minere","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Mortensen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Dorovykh","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Warnes","sequence":"additional","affiliation":[{"name":"Blizard Institute, Barts and The London School of Medicine and Dentistry , Queen Mary University of London, London E1 2AT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean","family":"Nizetic","sequence":"additional","affiliation":[{"name":"Blizard Institute, Barts and The London School of Medicine and Dentistry , Queen Mary University of London, London E1 2AT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trevor G","family":"Smart","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4594-0808","authenticated-orcid":false,"given":"Saad B","family":"Hannan","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London , London WC1E 6BT ,","place":["UK"]},{"name":"Department of Molecular and Cellular Biology, Harvard University , Cambridge, MA 02138 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,19]]},"reference":[{"key":"2025020305065631700_awae232-B1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/nature20566","article-title":"Organization and functions of mGlu and GABAB receptor complexes","volume":"540","author":"Pin","year":"2016","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B2","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S1054-3589(10)58010-4","article-title":"GABAB receptors: Physiological functions and mechanisms of diversity","volume":"58","author":"Pinard","year":"2010","journal-title":"Adv Pharmacol."},{"key":"2025020305065631700_awae232-B3","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1152\/physrev.00036.2003","article-title":"Molecular structure and physiological functions of GABAB receptors","volume":"84","author":"Bettler","year":"2004","journal-title":"Physiol Rev."},{"key":"2025020305065631700_awae232-B4","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.neuropharm.2014.06.016","article-title":"GABAB receptors as a therapeutic strategy in substance use disorders: Focus on positive allosteric modulators","volume":"88","author":"Filip","year":"2015","journal-title":"Neuropharmacology"},{"key":"2025020305065631700_awae232-B5","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.pbb.2013.07.003","article-title":"Therapeutic potential of GABAB receptor ligands in drug addiction, anxiety, depression and other CNS disorders","volume":"110","author":"Kumar","year":"2013","journal-title":"Pharmacol Biochem Behav"},{"key":"2025020305065631700_awae232-B6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/7854_2020_187","article-title":"GABAB receptors and drug addiction: Psychostimulants and other drugs of abuse","volume":"52","author":"Li","year":"2022","journal-title":"Curr Top Behav Neurosci"},{"key":"2025020305065631700_awae232-B7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1476-5381.2010.01004.x","article-title":"The GABAB receptor as a target for antidepressant drug action","volume":"162","author":"Ghose","year":"2011","journal-title":"Br J Pharmacol."},{"issue":"1\u20133","key":"2025020305065631700_awae232-B8","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.schres.2010.12.025","article-title":"Deficits in GABAB receptor system in schizophrenia and mood disorders: A postmortem study","volume":"128","author":"Fatemi","year":"2011","journal-title":"Schizophr Res."},{"key":"2025020305065631700_awae232-B9","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1042\/bst0270530","article-title":"GABAB receptors function as heterodimers","volume":"27","author":"Marshall","year":"1999","journal-title":"Biochem Soc Trans."},{"key":"2025020305065631700_awae232-B10","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/S0022-3565(24)35254-1","article-title":"\u03b3-aminobutyric acid-B receptors: First of the functional metabotropic heterodimers","volume":"292","author":"Bowery","year":"2000","journal-title":"J Pharmacol Exp Ther"},{"key":"2025020305065631700_awae232-B11","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0896-6273(00)00012-X","article-title":"A trafficking checkpoint controls GABAB receptor heterodimerization","volume":"27","author":"Margeta-Mitrovic","year":"2000","journal-title":"Neuron"},{"key":"2025020305065631700_awae232-B12","doi-asserted-by":"crossref","first-page":"24324","DOI":"10.1074\/jbc.M111.220814","article-title":"\u03b3-aminobutyric acid type B (GABAB) receptor internalization is regulated by the R2 subunit","volume":"286","author":"Hannan","year":"2011","journal-title":"J Biol Chem."},{"key":"2025020305065631700_awae232-B13","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.braindev.2022.03.010","article-title":"Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review","volume":"44","author":"D\u2019Onofrio","year":"2022","journal-title":"Brain Dev"},{"key":"2025020305065631700_awae232-B14","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"McRae","year":"2017","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B15","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s13760-019-01088-5","article-title":"Widening phenotypic spectrum of GABBR2 mutation","volume":"119","author":"Samanta","year":"2019","journal-title":"Acta Neurol Belg"},{"key":"2025020305065631700_awae232-B16","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1111\/cge.13903","article-title":"Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing","volume":"99","author":"Kim","year":"2021","journal-title":"Clin Genet."},{"key":"2025020305065631700_awae232-B17","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2017.09.008","article-title":"High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies","volume":"101","author":"Hamdan","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2025020305065631700_awae232-B18","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.ajhg.2014.08.013","article-title":"De Novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies","volume":"95","author":"Appenzeller","year":"2014","journal-title":"Am J Hum Genet"},{"key":"2025020305065631700_awae232-B19","doi-asserted-by":"crossref","first-page":"1267343","DOI":"10.3389\/fnmol.2023.1267343","article-title":"Characterization of a de novo GABBR2 variant linked to autism spectrum disorder","volume":"16","author":"Bielopolski","year":"2023","journal-title":"Front Mol Neurosci."},{"key":"2025020305065631700_awae232-B20","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/ana.25032","article-title":"GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy","volume":"82","author":"Yoo","year":"2017","journal-title":"Ann Neurol."},{"key":"2025020305065631700_awae232-B21","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","article-title":"Identification of novel genetic causes of rett syndrome-like phenotypes","volume":"53","author":"Lopes","year":"2016","journal-title":"J Med Genet."},{"key":"2025020305065631700_awae232-B22","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ana.25155","article-title":"A novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype","volume":"83","author":"Vuillaume","year":"2018","journal-title":"Ann Neurol."},{"key":"2025020305065631700_awae232-B23","doi-asserted-by":"crossref","first-page":"93","DOI":"10.2147\/TACG.S165799","article-title":"Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: Illustrative cases","volume":"11","author":"Carneiro","year":"2018","journal-title":"Appl Clin Genet"},{"key":"2025020305065631700_awae232-B24","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.celrep.2017.12.074","article-title":"Integrative analyses of De Novo mutations provide deeper biological insights into autism Spectrum disorder","volume":"22","author":"Takata","year":"2018","journal-title":"Cell Rep."},{"key":"2025020305065631700_awae232-B25","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.1016\/j.celrep.2016.07.021","article-title":"Phospho-dependent accumulation of GABABRs at presynaptic terminals after NMDAR activation","volume":"16","author":"Hannan","year":"2016","journal-title":"Cell Rep."},{"key":"2025020305065631700_awae232-B26","doi-asserted-by":"crossref","first-page":"109644","DOI":"10.1016\/j.neuropharm.2023.109644","article-title":"CGP7930\u2014An allosteric modulator of GABABRs, GABAARs and inwardly-rectifying potassium channels","volume":"238","author":"Hannan","year":"2023","journal-title":"Neuropharmacology"},{"key":"2025020305065631700_awae232-B27","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/B978-0-12-391862-8.00006-5","article-title":"Tracking cell surface mobility of GPCRs using \u03b1-bungarotoxin-linked fluorophores","volume":"521","author":"Hannan","year":"2013","journal-title":"Meth Enzymol."},{"key":"2025020305065631700_awae232-B28","doi-asserted-by":"publisher","author":"Hannan","DOI":"10.1101\/2021.12.08.471533"},{"key":"2025020305065631700_awae232-B29","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1523\/JNEUROSCI.17-10-03476.1997","article-title":"Arachidonic acid inhibits transient potassium currents and broadens action potentials during electrographic seizures in hippocampal pyramidal and inhibitory interneurons","volume":"17","author":"Keros","year":"1997","journal-title":"J Neurosci."},{"key":"2025020305065631700_awae232-B30","doi-asserted-by":"crossref","first-page":"5518","DOI":"10.1523\/JNEUROSCI.2748-19.2020","article-title":"Differential coassembly of \u03b11-GABAARs associated with epileptic encephalopathy","volume":"40","author":"Hannan","year":"2020","journal-title":"J Neurosci"},{"key":"2025020305065631700_awae232-B31","doi-asserted-by":"crossref","first-page":"e1997","DOI":"10.1371\/journal.pone.0001997","article-title":"Automated three-dimensional detection and shape classification of dendritic spines from fluorescence microscopy images","volume":"3","author":"Rodriguez","year":"2008","journal-title":"PLoS One"},{"key":"2025020305065631700_awae232-B32","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/s41586-020-2408-4","article-title":"Structural basis of the activation of a metabotropic GABA receptor","volume":"584","author":"Shaye","year":"2020","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B33","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1038\/s41586-020-2452-0","article-title":"Structure of human GABAB receptor in an inactive state","volume":"584","author":"Park","year":"2020","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B34","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/s41422-020-0350-5","article-title":"Cryo-EM structures of inactive and active GABAB receptor","volume":"30","author":"Mao","year":"2020","journal-title":"Cell Res."},{"key":"2025020305065631700_awae232-B35","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/s41586-020-2469-4","article-title":"Structures of metabotropic GABAB receptor","volume":"584","author":"Papasergi-Scott","year":"2020","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B36","doi-asserted-by":"crossref","first-page":"5.6.1","DOI":"10.1002\/cpbi.3","article-title":"Comparative protein structure modeling using MODELLER","volume":"54","author":"Webb","year":"2016","journal-title":"Curr Protoc Bioinf"},{"key":"2025020305065631700_awae232-B37","doi-asserted-by":"crossref","first-page":"i505","DOI":"10.1093\/bioinformatics\/btu457","article-title":"Assessing the local structural quality of transmembrane protein models using statistical potentials (QMEANBrane)","volume":"30","author":"Studer","year":"2014","journal-title":"Bioinformatics"},{"key":"2025020305065631700_awae232-B38","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/prot.22488","article-title":"Improved prediction of protein side-chain conformations with SCWRL4","volume":"77","author":"Krivov","year":"2009","journal-title":"Proteins: Struct Funct Bioinf"},{"key":"2025020305065631700_awae232-B39","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1107\/S0907444909042073","article-title":"MolProbity: All-atom structure validation for macromolecular crystallography","volume":"66","author":"Chen","year":"2010","journal-title":"Acta Crystallogr Sect D"},{"key":"2025020305065631700_awae232-B40","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera--a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J Comput Chem."},{"key":"2025020305065631700_awae232-B41","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/s41392-020-00435-w","article-title":"G protein-coupled receptors: Structure- and function-based drug discovery","volume":"6","author":"Yang","year":"2021","journal-title":"Signal Transduct Target Ther"},{"key":"2025020305065631700_awae232-B42","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/nature08144","article-title":"The structure and function of G-protein-coupled receptors","volume":"459","author":"Rosenbaum","year":"2009","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B43","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1038\/s41586-021-03507-1","article-title":"Structural basis of GABAB receptor\u2013gi protein coupling","volume":"594","author":"Shen","year":"2021","journal-title":"Nature"},{"key":"2025020305065631700_awae232-B44","doi-asserted-by":"crossref","first-page":"5966","DOI":"10.1016\/j.jmb.2020.09.023","article-title":"Structural basis for activation of the heterodimeric GABAB receptor","volume":"432","author":"Kim","year":"2020","journal-title":"J Mol Biol."},{"key":"2025020305065631700_awae232-B45","doi-asserted-by":"crossref","first-page":"eabg3362","DOI":"10.1126\/sciadv.abg3362","article-title":"Molecular mechanisms of metabotropic GABAB receptor function","volume":"7","author":"Shaye","year":"2022","journal-title":"Sci Adv."},{"key":"2025020305065631700_awae232-B46","doi-asserted-by":"publisher","author":"Niturad","DOI":"10.15496\/publikation-12927"},{"key":"2025020305065631700_awae232-B47","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1523\/JNEUROSCI.21-04-01203.2001","article-title":"The C-terminal domains of the GABAB receptor subunits mediate intracellular trafficking but are not required for receptor signaling","volume":"21","author":"Calver","year":"2001","journal-title":"J Neurosci."},{"key":"2025020305065631700_awae232-B48","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.mcn.2004.12.006","article-title":"Multiple motifs regulate the trafficking of GABAB receptors at distinct checkpoints within the secretory pathway","volume":"28","author":"Restituito","year":"2005","journal-title":"Mol Cell Neurosci"},{"key":"2025020305065631700_awae232-B49","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1146\/annurev.physiol.59.1.171","article-title":"Inward rectifier potassium channels","volume":"59","author":"Nichols","year":"1997","journal-title":"Annu Rev Physiol."},{"key":"2025020305065631700_awae232-B50","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1085\/jgp.67.6.621","article-title":"Potassium current and the effect of cesium on this current during anomalous rectification of the egg cell membrane of a starfish","volume":"67","author":"Hagiwara","year":"1976","journal-title":"J Gen Physiol"},{"key":"2025020305065631700_awae232-B51","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1146\/annurev.physiol.64.081501.160008","article-title":"Structure and function of dendritic spines","volume":"64","author":"Nimchinsky","year":"2002","journal-title":"Annu Rev Physiol."},{"key":"2025020305065631700_awae232-B52","doi-asserted-by":"crossref","first-page":"9908","DOI":"10.1038\/s41598-018-28321-0","article-title":"Baclofen acts in the central amygdala to reduce synaptic transmission and impair context fear conditioning","volume":"8","author":"Delaney","year":"2018","journal-title":"Sci Rep."},{"key":"2025020305065631700_awae232-B53","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1152\/jn.00476.2011","article-title":"GABAB-mediated inhibition of multiple modes of glutamate release in the nucleus of the solitary tract","volume":"106","author":"Fawley","year":"2011","journal-title":"J Neurophysiol."},{"key":"2025020305065631700_awae232-B54","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1523\/JNEUROSCI.3697-08.2009","article-title":"The GABAB1a isoform mediates heterosynaptic depression at hippocampal mossy fiber synapses","volume":"29","author":"Guetg","year":"2009","journal-title":"J Neurosci."},{"key":"2025020305065631700_awae232-B55","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1007\/s00424-021-02576-5","article-title":"Presynaptic GABAB receptor\u2013mediated network excitation in the medial prefrontal cortex of Tsc2+\/- mice","volume":"473","author":"Bassetti","year":"2021","journal-title":"Pflugers Arch"},{"key":"2025020305065631700_awae232-B56","first-page":"55","article-title":"Targeted pharmacological treatment of autism spectrum disorders: Fragile X and Rett syndromes","volume":"9","author":"Hansen","year":"2015","journal-title":"Front Cell Neurosci."},{"key":"2025020305065631700_awae232-B57","doi-asserted-by":"crossref","first-page":"eabg7859","DOI":"10.1126\/scitranslmed.abg7859","article-title":"GABAB receptor modulation of visual sensory processing in adults with and without autism spectrum disorder","volume":"14","author":"Huang","year":"2023","journal-title":"Sci Transl Med."},{"key":"2025020305065631700_awae232-B58","doi-asserted-by":"crossref","first-page":"403","DOI":"10.3389\/fneur.2020.00403","article-title":"Clinical characteristics of anti-GABAB receptor encephalitis","volume":"11","author":"Zhu","year":"2020","journal-title":"Front Neurolol"},{"key":"2025020305065631700_awae232-B59","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1007\/s00439-016-1721-3","article-title":"Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype","volume":"135","author":"Lucariello","year":"2016","journal-title":"Hum Genet."},{"key":"2025020305065631700_awae232-B60","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.pediatrneurol.2019.04.005","article-title":"Vigabatrin as a targeted treatment of GABAB receptor-related epileptic encephalopathy","volume":"99","author":"Chin","year":"2019","journal-title":"Pediatr Neurol."},{"issue":"e70188","key":"2025020305065631700_awae232-B61","first-page":"1","article-title":"Allosteric ligands control the activation of a class C GPCR heterodimer by acting at the transmembrane interface","volume":"10","author":"Liu","year":"2021","journal-title":"Elife"},{"key":"2025020305065631700_awae232-B62","doi-asserted-by":"crossref","first-page":"2765","DOI":"10.1038\/s41467-019-10834-5","article-title":"Rearrangement of the transmembrane domain interfaces associated with the activation of a GPCR hetero-oligomer","volume":"10","author":"Xue","year":"2019","journal-title":"Nat Commun."},{"issue":"1529\u20132401","key":"2025020305065631700_awae232-B63","doi-asserted-by":"crossref","first-page":"6086","DOI":"10.1523\/JNEUROSCI.5635-03.2004","article-title":"Redistribution of GABAB1 protein and atypical GABAB responses in GABAB2-deficient mice","volume":"24","author":"Gassmann","year":"2004","journal-title":"J Neurosci."},{"key":"2025020305065631700_awae232-B64","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S0014-2999(97)01111-4","article-title":"Comparative in vivo and in vitro studies with the potent GABAB receptor antagonist, CGP56999A","volume":"333","author":"Badran","year":"1997","journal-title":"Eur J Pharmacol."},{"key":"2025020305065631700_awae232-B65","doi-asserted-by":"crossref","first-page":"325","DOI":"10.33549\/physiolres.932260","article-title":"An antagonist of GABAB receptors potentiates activity of cortical epileptic foci","volume":"61","author":"Mare\u0161","year":"2012","journal-title":"Physiol Res"},{"key":"2025020305065631700_awae232-B66","doi-asserted-by":"crossref","first-page":"14536","DOI":"10.1038\/ncomms14536","article-title":"Epilepsy and intellectual disability linked protein shrm4 interaction with GABABRs shapes inhibitory neurotransmission","volume":"8","author":"Zapata","year":"2017","journal-title":"Nat Commun."},{"key":"2025020305065631700_awae232-B67","doi-asserted-by":"crossref","first-page":"21682","DOI":"10.1074\/jbc.M116.750968","article-title":"Lys-63-linked ubiquitination of \u03b3-aminobutyric acid (GABA), type B1, at multiple sites by the E3 ligase mind bomb-2 targets GABAB receptors to lysosomal degradation","volume":"291","author":"Zemoura","year":"2016","journal-title":"J Biol Chem."},{"key":"2025020305065631700_awae232-B68","doi-asserted-by":"crossref","first-page":"34897","DOI":"10.1074\/jbc.M113.514745","article-title":"Endoplasmic reticulum-associated degradation controls cell surface expression of \u03b3-aminobutyric acid, type B receptors","volume":"288","author":"Zemoura","year":"2013","journal-title":"J Biol Chem."},{"key":"2025020305065631700_awae232-B69","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1038\/emboj.2011.143","article-title":"The oligomeric state sets GABAB receptor \u20acsignalling efficacy","volume":"30","author":"Comps-Agrar","year":"2011","journal-title":"EMBO J"},{"key":"2025020305065631700_awae232-B70","doi-asserted-by":"crossref","first-page":"8780","DOI":"10.1038\/s41598-023-35890-2","article-title":"Somatostatin-expressing interneurons modulate neocortical network through GABAB receptors in a synapse-specific manner","volume":"13","author":"Kanigowski","year":"2023","journal-title":"Sci Rep."},{"key":"2025020305065631700_awae232-B71","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1177\/1073858418805002","article-title":"GABAergic interneurons in seizures: Investigating causality with optogenetics","volume":"25","author":"Magloire","year":"2018","journal-title":"Neuroscientist."},{"key":"2025020305065631700_awae232-B72","first-page":"1","volume-title":"Advances in pharmacology","author":"Bowery","year":"2010"},{"key":"2025020305065631700_awae232-B73","doi-asserted-by":"crossref","first-page":"6206","DOI":"10.1016\/j.bmcl.2007.09.023","article-title":"Syntheses and optimization of new GS39783 analogues as positive allosteric modulators of GABAB receptors","volume":"17","author":"Guery","year":"2007","journal-title":"Bioorg Med Chem Lett."},{"key":"2025020305065631700_awae232-B74","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.neuropharm.2015.10.009","article-title":"Anticonvulsant effects of structurally diverse GABAB positive allosteric modulators in the DBA\/2J audiogenic seizure test: Comparison to baclofen and utility as a pharmacodynamic screening model","volume":"101","author":"Brown","year":"2016","journal-title":"Neuropharmacology"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awae232\/60933626\/awae232.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/2\/533\/60933626\/awae232.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/2\/533\/60933626\/awae232.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T05:08:28Z","timestamp":1738559308000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/2\/533\/7717204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,19]]},"references-count":74,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,7,19]]},"published-print":{"date-parts":[[2025,2,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awae232","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,2]]},"published":{"date-parts":[[2024,7,19]]}}}