{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:54Z","timestamp":1791978474746,"version":"4.4.0"},"reference-count":75,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["HU 800\/7-2"],"award-info":[{"award-number":["HU 800\/7-2"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"BMBF","doi-asserted-by":"publisher","award":["01EW1706"],"award-info":[{"award-number":["01EW1706"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018645","name":"MRC","doi-asserted-by":"publisher","award":["G1002279"],"award-info":[{"award-number":["G1002279"]}],"id":[{"id":"10.13039\/100018645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018645","name":"MRC","doi-asserted-by":"publisher","award":["G1001931"],"award-info":[{"award-number":["G1001931"]}],"id":[{"id":"10.13039\/100018645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["GW4-CAT"],"award-info":[{"award-number":["GW4-CAT"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["220600\/Z\/20\/Z"],"award-info":[{"award-number":["220600\/Z\/20\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Saudi Human Genome Program"},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome","doi-asserted-by":"publisher","award":["220600\/Z\/20\/Z"],"award-info":[{"award-number":["220600\/Z\/20\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3\u2212 uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons and interneurons, as well as in epithelial cells of the choroid plexus, the organ regulating the production of CSF.<\/jats:p>\n               <jats:p>Using next generation sequencing on samples from five unrelated families encompassing nine affected individuals, we show that biallelic SLC4A10 loss-of-function variants cause a clinically recognizable neurodevelopmental disorder in humans. The cardinal clinical features of the condition include hypotonia in infancy, delayed psychomotor development across all domains and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. In two cases isolated episodes of seizures were reported in the first few years of life, and a further affected child displayed bitemporal epileptogenic discharges on EEG without overt clinical seizures. While occipitofrontal circumference was reported to be normal at birth, progressive postnatal microcephaly evolved in 7 out of 10 affected individuals. Neuroradiological features included a relative preservation of brain volume compared to occipitofrontal circumference, characteristic narrow sometimes \u2018slit-like\u2019 lateral ventricles and corpus callosum abnormalities.<\/jats:p>\n               <jats:p>Slc4a10 \u2212\/\u2212 mice, deficient for SLC4A10, also display small lateral brain ventricles and mild behavioural abnormalities including delayed habituation and alterations in the two-object novel object recognition task. Collapsed brain ventricles in both Slc4a10\u2212\/\u2212 mice and affected individuals suggest an important role of SLC4A10 in the production of the CSF. However, it is notable that despite diverse roles of the CSF in the developing and adult brain, the cortex of Slc4a10\u2212\/\u2212 mice appears grossly intact.<\/jats:p>\n               <jats:p>Co-staining with synaptic markers revealed that in neurons, SLC4A10 localizes to inhibitory, but not excitatory, presynapses. These findings are supported by our functional studies, which show the release of the inhibitory neurotransmitter GABA is compromised in Slc4a10\u2212\/\u2212 mice, while the release of the excitatory neurotransmitter glutamate is preserved. Manipulation of intracellular pH partially rescues GABA release.<\/jats:p>\n               <jats:p>Together our studies define a novel neurodevelopmental disorder associated with biallelic pathogenic variants in SLC4A10 and highlight the importance of further analyses of the consequences of SLC4A10 loss-of-function for brain development, synaptic transmission and network properties.<\/jats:p>","DOI":"10.1093\/brain\/awad235","type":"journal-article","created":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T12:06:53Z","timestamp":1689422813000},"page":"4547-4561","source":"Crossref","is-referenced-by-count":20,"title":["SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7614-9202","authenticated-orcid":false,"given":"James","family":"Fasham","sequence":"first","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"},{"name":"Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antje K","family":"Huebner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universit\u00e4t , 07747 Jena , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutz","family":"Liebmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universit\u00e4t , 07747 Jena , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reham","family":"Khalaf-Nazzal","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Faculty of Medicine, Arab American University of Palestine , Jenin, P227 , Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Molecular and Clinical Sciences Institute, St. George\u2019s University of London , London SW17 0RE , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nderim","family":"Kryeziu","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universit\u00e4t , 07747 Jena , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B","family":"Wortmann","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) , 5020 Salzburg , Austria"},{"name":"Amalia Children\u2019s Hospital, Radboudumc , 6525 GA Nijmegen , The Netherlands"},{"name":"Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen , 80333 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0972-8818","authenticated-orcid":false,"given":"Joseph S","family":"Leslie","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishanka","family":"Ubeyratna","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1211-9979","authenticated-orcid":false,"given":"Grazia M S","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Wilke","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan E","family":"Shamseldin","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center , Riyadh 11564 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Rady Children\u2019s Institute for Genomic Medicine , San Diego, CA 92123 , USA"},{"name":"Department of Neurosciences, University of California, San Diego , La Jolla, CA 92093 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1050-3117","authenticated-orcid":false,"given":"Mohamed","family":"Almuhaizea","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, King Faisal Specialist Hospital and Research Center , Riyadh 11564 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imad","family":"Dweikat","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Faculty of Medicine, Arab American University of Palestine , Jenin, P227 , Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam","family":"Abu-Libdeh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University , East Jerusalem, 95908 , Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhannad","family":"Daana","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Arab Women\u2019s Union Hospital , Nablus, P400 , Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki , Cairo 12622 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew N","family":"Wakeling","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"McGavin","sequence":"additional","affiliation":[{"name":"Department of Radiology, Derriford Hospital , Plymouth PL6 8DH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D","family":"Turnpenny","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"},{"name":"Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center , Riyadh 11564 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Molecular and Clinical Sciences Institute, St. George\u2019s University of London , London SW17 0RE , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Schlattmann","sequence":"additional","affiliation":[{"name":"Institute for Medical Statistics, Computer Science and Data Science, Jena University Hospital , 07747 Jena , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Kaila","sequence":"additional","affiliation":[{"name":"Molecular and Integrative Biosciences, University of Helsinki , 00014 Helsinki , Finland"},{"name":"Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki , 00014 Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3667-9054","authenticated-orcid":false,"given":"Andrew H","family":"Crosby","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6637-3411","authenticated-orcid":false,"given":"Emma L","family":"Baple","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"},{"name":"Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust , Exeter EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian A","family":"H\u00fcbner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universit\u00e4t , 07747 Jena , Germany"},{"name":"Center for Rare Diseases, Jena University Hospital , Friedrich Schiller Universit\u00e4t, 07747 Jena , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,7,17]]},"reference":[{"key":"2023110723360504700_awad235-B1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/345347a0","article-title":"Proton inhibition of N-methyl-D-aspartate receptors in cerebellar neurons","volume":"345","author":"Traynelis","year":"1990","journal-title":"Nature"},{"issue":"Pt 3","key":"2023110723360504700_awad235-B2","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1113\/jphysiol.1996.sp021417","article-title":"Effects of extracellular pH on voltage-gated Na+, K+ and Ca2+ currents in isolated rat CA1 neurons","volume":"493","author":"Tombaugh","year":"1996","journal-title":"J Physiol"},{"key":"2023110723360504700_awad235-B3","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/386173a0","article-title":"A proton-gated cation channel involved in acid-sensing","volume":"386","author":"Waldmann","year":"1997","journal-title":"Nature"},{"issue":"9\u201310","key":"2023110723360504700_awad235-B4","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1016\/S0028-3908(96)00075-5","article-title":"Proton modulation of functionally distinct GABAA receptors in acutely isolated pyramidal neurons of rat hippocampus","volume":"35","author":"Pasternack","year":"1996","journal-title":"Neuropharmacology"},{"key":"2023110723360504700_awad235-B5","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1016\/j.febslet.2013.04.045","article-title":"Minireview: pH and synaptic transmission","volume":"587","author":"Sinning","year":"2013","journal-title":"FEBS Lett"},{"key":"2023110723360504700_awad235-B6","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1152\/physrev.00010.2003","article-title":"Regulation and modulation of pH in the brain","volume":"83","author":"Chesler","year":"2003","journal-title":"Physiol Rev"},{"key":"2023110723360504700_awad235-B7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3389\/fphys.2014.00043","article-title":"Intracellular pH regulation by acid-base transporters in mammalian neurons","volume":"5","author":"Ruffin","year":"2014","journal-title":"Front Physiol"},{"key":"2023110723360504700_awad235-B8","doi-asserted-by":"crossref","first-page":"7300","DOI":"10.1523\/JNEUROSCI.0269-11.2011","article-title":"Synaptic glutamate release is modulated by the Na+-driven Cl\u2212\/HCO3\u2212 exchanger Slc4a8","volume":"31","author":"Sinning","year":"2011","journal-title":"J Neurosci."},{"key":"2023110723360504700_awad235-B9","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1002\/cne.22806","article-title":"The sodium-driven chloride\/bicarbonate exchanger in presynaptic terminals","volume":"520","author":"Burette","year":"2012","journal-title":"J Comp Neurol"},{"key":"2023110723360504700_awad235-B10","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1113\/JP272470","article-title":"Role of Cl\u2212-HCO3\u2212 exchanger AE3 in intracellular pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes","volume":"595","author":"Salameh","year":"2017","journal-title":"J Physiol"},{"key":"2023110723360504700_awad235-B11","doi-asserted-by":"crossref","first-page":"4263","DOI":"10.1093\/cercor\/bhy308","article-title":"The Na+\/H+ exchanger Nhe1 modulates network excitability via GABA release","volume":"29","author":"Bocker","year":"2019","journal-title":"Cereb Cortex"},{"key":"2023110723360504700_awad235-B12","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1523\/JNEUROSCI.1774-19.2020","article-title":"Neuronal glutamatergic synaptic clefts alkalinize rather than acidify during neurotransmission","volume":"40","author":"Stawarski","year":"2020","journal-title":"J Neurosci."},{"key":"2023110723360504700_awad235-B13","doi-asserted-by":"crossref","first-page":"5575","DOI":"10.1016\/j.bpj.2021.11.011","article-title":"Computational modeling predicts ephemeral acidic microdomains in the glutamatergic synaptic cleft","volume":"120","author":"Feghhi","year":"2021","journal-title":"Biophys J."},{"key":"2023110723360504700_awad235-B14","doi-asserted-by":"crossref","first-page":"2083","DOI":"10.1002\/cphy.c110020","article-title":"Na+\/H+ exchangers","volume":"1","author":"Orlowski","year":"2011","journal-title":"Compr Physiol"},{"issue":"2\u20133","key":"2023110723360504700_awad235-B15","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.mam.2012.10.008","article-title":"The SLC4 family of bicarbonate (HCO3-) transporters","volume":"34","author":"Romero","year":"2013","journal-title":"Mol Aspects Med"},{"issue":"2\u20133","key":"2023110723360504700_awad235-B16","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.mam.2012.07.009","article-title":"The SLC26 gene family of anion transporters and channels","volume":"34","author":"Alper","year":"2013","journal-title":"Mol Aspects Med"},{"key":"2023110723360504700_awad235-B17","doi-asserted-by":"crossref","first-page":"618256","DOI":"10.3389\/fmed.2020.618256","article-title":"Physiological and pathological functions of SLC26A6","volume":"7","author":"Wang","year":"2021","journal-title":"Front Med (Lausanne)."},{"key":"2023110723360504700_awad235-B18","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1080\/14756360410001704443","article-title":"The bicarbonate transport metabolon","volume":"19","author":"McMurtrie","year":"2004","journal-title":"J Enzyme Inhib Med Chem"},{"key":"2023110723360504700_awad235-B19","doi-asserted-by":"crossref","first-page":"26998","DOI":"10.1074\/jbc.M110.108712","article-title":"Na+-dependent HCO3- import by the slc4a10 gene product involves Cl- export","volume":"285","author":"Damkier","year":"2010","journal-title":"J Biol Chem"},{"key":"2023110723360504700_awad235-B20","doi-asserted-by":"crossref","first-page":"12777","DOI":"10.1074\/jbc.M707829200","article-title":"Characterization of human SLC4A10 as an electroneutral Na\/HCO3 cotransporter (NBCn2) with Cl- self-exchange activity","volume":"283","author":"Parker","year":"2008","journal-title":"J Biol Chem"},{"key":"2023110723360504700_awad235-B21","doi-asserted-by":"crossref","first-page":"C601","DOI":"10.1152\/ajpcell.00240.2003","article-title":"A SCL4A10 gene product maps selectively to the basolateral plasma membrane of choroid plexus epithelial cells","volume":"286","author":"Praetorius","year":"2004","journal-title":"Am J Physiol Cell Physiol"},{"key":"2023110723360504700_awad235-B22","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1073\/pnas.0705487105","article-title":"Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability","volume":"105","author":"Jacobs","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2023110723360504700_awad235-B23","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/s10162-019-00719-1","article-title":"Early hearing loss upon disruption of Slc4a10 in C57BL\/6 mice","volume":"20","author":"Huebner","year":"2019","journal-title":"J Assoc Res Otolaryngol"},{"key":"2023110723360504700_awad235-B24","doi-asserted-by":"crossref","first-page":"223","DOI":"10.3389\/fncel.2015.00223","article-title":"Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity","volume":"9","author":"Sinning","year":"2015","journal-title":"Front Cell Neurosci"},{"key":"2023110723360504700_awad235-B25","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.gene.2014.01.060","article-title":"A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl","volume":"539","author":"Belengeanu","year":"2014","journal-title":"Gene"},{"key":"2023110723360504700_awad235-B26","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1001\/archneur.65.4.550","article-title":"Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation","volume":"65","author":"Gurnett","year":"2008","journal-title":"Arch Neurol."},{"key":"2023110723360504700_awad235-B27","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.1111\/j.1528-1167.2010.02742.x","article-title":"Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy","volume":"51","author":"Krepischi","year":"2010","journal-title":"Epilepsia"},{"key":"2023110723360504700_awad235-B28","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1126\/science.1138659","article-title":"Strong association of de novo copy number mutations with autism","volume":"316","author":"Sebat","year":"2007","journal-title":"Science"},{"key":"2023110723360504700_awad235-B29","doi-asserted-by":"crossref","first-page":"e1009940","DOI":"10.1371\/journal.pcbi.1009940","article-title":"SavvyCNV: Genome-wide CNV calling from off-target reads","volume":"18","author":"Laver","year":"2022","journal-title":"PLoS Comput Biol."},{"key":"2023110723360504700_awad235-B30","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/jimd.12109","article-title":"Mitochondrial DNA mutation analysis from exome sequencing\u2014A more holistic approach in diagnostics of suspected mitochondrial disease","volume":"42","author":"Wagner","year":"2019","journal-title":"J Inherit Metab Dis"},{"key":"2023110723360504700_awad235-B31","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.ajhg.2011.12.005","article-title":"Lack of the mitochondrial protein acylglycerol kinase causes sengers syndrome","volume":"90","author":"Mayr","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2023110723360504700_awad235-B32","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1016\/j.ajhg.2019.04.011","article-title":"Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population","volume":"104","author":"Monies","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2023110723360504700_awad235-B33","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"2023110723360504700_awad235-B34","doi-asserted-by":"crossref","first-page":"C723","DOI":"10.1152\/ajpcell.00462.2010","article-title":"A practical guide to evaluating colocalization in biological microscopy","volume":"300","author":"Dunn","year":"2011","journal-title":"Am J Physiol-Cell Physiol"},{"key":"2023110723360504700_awad235-B35","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1152\/jn.01137.2007","article-title":"Differential effects of corticosterone on the slow afterhyperpolarization in the basolateral amygdala and CA1 region: Possible role of calcium channel subunits","volume":"99","author":"Liebmann","year":"2008","journal-title":"J Neurophysiol"},{"key":"2023110723360504700_awad235-B36","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1002\/sim.7263","article-title":"Analysis of small sample size studies using nonparametric bootstrap test with pooled resampling method","volume":"36","author":"Dwivedi","year":"2017","journal-title":"Stat Med"},{"key":"2023110723360504700_awad235-B37"},{"key":"2023110723360504700_awad235-B38","year":"2021"},{"key":"2023110723360504700_awad235-B39"},{"key":"2023110723360504700_awad235-B40","doi-asserted-by":"crossref","first-page":"pdb.prot5623","DOI":"10.1101\/pdb.prot5623","article-title":"Labeling membrane glycoproteins or glycolipids with fluorescent wheat germ agglutinin","volume":"2011","author":"Chazotte","year":"2011","journal-title":"Cold Spring Harb Protoc"},{"key":"2023110723360504700_awad235-B41","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.bbr.2007.06.012","article-title":"Atypical antipsychotics attenuate a sub-chronic PCP-induced cognitive deficit in the novel object recognition task in the rat","volume":"184","author":"Grayson","year":"2007","journal-title":"Behav Brain Res"},{"key":"2023110723360504700_awad235-B42","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1523\/JNEUROSCI.5404-10.2011","article-title":"Wnt signaling regulates neuronal differentiation of cortical intermediate progenitors","volume":"31","author":"Munji","year":"2011","journal-title":"J Neurosci."},{"key":"2023110723360504700_awad235-B43","doi-asserted-by":"crossref","first-page":"e52852","DOI":"10.7554\/eLife.52852","article-title":"Spontaneous and evoked neurotransmission are partially segregated at inhibitory synapses","volume":"9","author":"Horvath","year":"2020","journal-title":"eLife"},{"key":"2023110723360504700_awad235-B44","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1007\/BF00594188","article-title":"A novel method for absolute calibration of intracellular pH indicators","volume":"413","author":"Eisner","year":"1989","journal-title":"Pflugers Arch"},{"key":"2023110723360504700_awad235-B45","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1152\/physrev.00004.2013","article-title":"Cerebrospinal fluid secretion by the choroid plexus","volume":"93","author":"Damkier","year":"2013","journal-title":"Physiol Rev"},{"key":"2023110723360504700_awad235-B46","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1038\/s41588-018-0147-3","article-title":"Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals","volume":"50","author":"Lee","year":"2018","journal-title":"Nat Genet."},{"key":"2023110723360504700_awad235-B47","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.1038\/s41380-018-0262-7","article-title":"Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes","volume":"25","author":"van der Meer","year":"2020","journal-title":"Mol Psychiatry."},{"key":"2023110723360504700_awad235-B48","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/nature13595","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","author":"Ripke","year":"2014","journal-title":"Nature"},{"key":"2023110723360504700_awad235-B49","doi-asserted-by":"crossref","first-page":"e48975","DOI":"10.1371\/journal.pone.0048975","article-title":"Mice genetically depleted of brain serotonin display social impairments, communication deficits and repetitive behaviors: Possible relevance to autism","volume":"7","author":"Kane","year":"2012","journal-title":"PLoS ONE"},{"key":"2023110723360504700_awad235-B50","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/nature04720","article-title":"Modulation of intracortical synaptic potentials by presynaptic somatic membrane potential","volume":"441","author":"Shu","year":"2006","journal-title":"Nature"},{"key":"2023110723360504700_awad235-B51","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/330163a0","article-title":"Postsynaptic fall in intracellular pH induced by GABA-activated bicarbonate conductance","volume":"330","author":"Kaila","year":"1987","journal-title":"Nature"},{"key":"2023110723360504700_awad235-B52","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1152\/jn.1985.54.5.1363","article-title":"Epileptiform activity induced by changes in extracellular potassium in hippocampus","volume":"54","author":"Rutecki","year":"1985","journal-title":"J Neurophysiol."},{"key":"2023110723360504700_awad235-B53","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0079-6123(06)60005-8","article-title":"The cellular, molecular and ionic basis of GABA(A) receptor signalling","volume":"160","author":"Farrant","year":"2007","journal-title":"Prog Brain Res"},{"key":"2023110723360504700_awad235-B54","doi-asserted-by":"crossref","first-page":"16044","DOI":"10.1523\/JNEUROSCI.6364-09.2010","article-title":"Synaptic acidification enhances GABAA signaling","volume":"30","author":"Dietrich","year":"2010","journal-title":"J Neurosci."},{"key":"2023110723360504700_awad235-B55","doi-asserted-by":"crossref","first-page":"7981","DOI":"10.1523\/JNEUROSCI.23-22-07981.2003","article-title":"Modulation of GABAA receptors by hydrogen ions reveals synaptic GABA transient and a crucial role of the desensitization process","volume":"23","author":"Mozrzymas","year":"2003","journal-title":"J Neurosci."},{"key":"2023110723360504700_awad235-B56","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1152\/jn.2001.85.5.2063","article-title":"Enhanced temporal stability of cholinergic hippocampal gamma oscillations following respiratory alkalosis in vitro","volume":"85","author":"Stenkamp","year":"2001","journal-title":"J Neurophysiol."},{"key":"2023110723360504700_awad235-B57","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/hmg\/ddu461","article-title":"Mutation of SLC9A1, encoding the major Na+\/H+ exchanger, causes ataxia-deafness lichtenstein-knorr syndrome","volume":"24","author":"Guissart","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2023110723360504700_awad235-B58","doi-asserted-by":"crossref","first-page":"8358","DOI":"10.1074\/jbc.C000716200","article-title":"Cloning, characterization, and chromosomal mapping of a human electroneutral Na(+)-driven Cl-HCO3 exchanger","volume":"276","author":"Grichtchenko","year":"2001","journal-title":"J Biol Chem"},{"key":"2023110723360504700_awad235-B59","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/35022702","article-title":"Intracellular calcium dependence of transmitter release rates at a fast central synapse","volume":"406","author":"Schneggenburger","year":"2000","journal-title":"Nature"},{"key":"2023110723360504700_awad235-B60","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/j.neuroscience.2007.02.049","article-title":"Effects of extracellular pH on neuronal calcium channel activation","volume":"146","author":"Doering","year":"2007","journal-title":"Neuroscience"},{"key":"2023110723360504700_awad235-B61","doi-asserted-by":"crossref","first-page":"C1688","DOI":"10.1152\/ajpcell.00141.2004","article-title":"Effect of intracellular pH on depolarization-evoked calcium influx in human sperm","volume":"287","author":"Fraire-Zamora","year":"2004","journal-title":"Am J Physiol Cell Physiol"},{"key":"2023110723360504700_awad235-B62","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1113\/jphysiol.1994.sp020078","article-title":"ph dependence of inositol 1,4,5-trisphosphate-induced Ca2+ release in permeabilized smooth muscle cells of the Guinea-pig","volume":"475","author":"Tsukioka","year":"1994","journal-title":"J Physiol"},{"key":"2023110723360504700_awad235-B63","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1126\/science.2459777","article-title":"Ryanodine receptor of skeletal muscle is a gap junction-type channel","volume":"242","author":"Ma","year":"1988","journal-title":"Science"},{"key":"2023110723360504700_awad235-B64","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1146\/annurev-biophys-060414-034057","article-title":"The synaptic vesicle release machinery","volume":"44","author":"Rizo","year":"2015","journal-title":"Annu Rev Biophys."},{"key":"2023110723360504700_awad235-B65","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1126\/science.aad8142","article-title":"Single-vesicle imaging reveals different transport mechanisms between glutamatergic and GABAergic vesicles","volume":"351","author":"Farsi","year":"2016","journal-title":"Science"},{"key":"2023110723360504700_awad235-B66","doi-asserted-by":"crossref","first-page":"10702","DOI":"10.1073\/pnas.1604527113","article-title":"Unique pH dynamics in GABAergic synaptic vesicles illuminates the mechanism and kinetics of GABA loading","volume":"113","author":"Egashira","year":"2016","journal-title":"Proc Natl Acad Sci USA."},{"key":"2023110723360504700_awad235-B67","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/0896-6273(95)90179-5","article-title":"Variation in GABA mini amplitude is the consequence of variation in transmitter concentration","volume":"15","author":"Frerking","year":"1995","journal-title":"Neuron"},{"key":"2023110723360504700_awad235-B68","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.cell.2013.08.060","article-title":"Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division","volume":"155","author":"Paridaen","year":"2013","journal-title":"Cell"},{"key":"2023110723360504700_awad235-B69","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.devcel.2015.11.015","article-title":"Progressive differentiation and instructive capacities of amniotic fluid and cerebrospinal fluid proteomes following neural tube closure","volume":"35","author":"Chau","year":"2015","journal-title":"Dev Cell."},{"key":"2023110723360504700_awad235-B70","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.neuron.2011.01.023","article-title":"The cerebrospinal fluid provides a proliferative niche for neural progenitor cells","volume":"69","author":"Lehtinen","year":"2011","journal-title":"Neuron"},{"key":"2023110723360504700_awad235-B71","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.devcel.2020.01.027","article-title":"Emergence and developmental roles of the cerebrospinal fluid system","volume":"52","author":"Fame","year":"2020","journal-title":"Dev Cell"},{"key":"2023110723360504700_awad235-B72","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.tins.2004.05.008","article-title":"Regulation of neocortical interneuron development and the implications for neurodevelopmental disorders","volume":"27","author":"Levitt","year":"2004","journal-title":"Trends Neurosci"},{"key":"2023110723360504700_awad235-B73","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1177\/1073858417734530","article-title":"GABA\u2014From inhibition to cognition: Emerging concepts","volume":"24","author":"Schmidt-Wilcke","year":"2018","journal-title":"Neuroscientist"},{"key":"2023110723360504700_awad235-B74","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.bbr.2012.01.031","article-title":"Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model","volume":"229","author":"Heulens","year":"2012","journal-title":"Behav Brain Res"},{"key":"2023110723360504700_awad235-B75","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1159\/000329424","article-title":"Amygdala regulation of fear and emotionality in fragile X syndrome","volume":"33","author":"Olmos-Serrano","year":"2011","journal-title":"Dev Neurosci"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awad235\/52017833\/awad235.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/11\/4547\/52808993\/awad235.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/11\/4547\/52808993\/awad235.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T23:37:06Z","timestamp":1699400226000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/146\/11\/4547\/7225470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,17]]},"references-count":75,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,7,17]]},"published-print":{"date-parts":[[2023,11,2]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awad235","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,11]]},"published":{"date-parts":[[2023,7,17]]}}}