{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:23:31Z","timestamp":1786980211559,"version":"build-2736575974"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,1,15]],"date-time":"2022-01-15T00:00:00Z","timestamp":1642204800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,15]],"date-time":"2022-01-15T00:00:00Z","timestamp":1642204800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20ek0109486"],"award-info":[{"award-number":["JP20ek0109486"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109549"],"award-info":[{"award-number":["JP21ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21cm0106503"],"award-info":[{"award-number":["JP21cm0106503"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109493"],"award-info":[{"award-number":["JP21ek0109493"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109288"],"award-info":[{"award-number":["JP19ek0109288"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP20K07907"],"award-info":[{"award-number":["JP20K07907"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP20K17936"],"award-info":[{"award-number":["JP20K17936"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP20K17428"],"award-info":[{"award-number":["JP20K17428"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP20K16932"],"award-info":[{"award-number":["JP20K16932"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science London","doi-asserted-by":"publisher","award":["JP21k15097"],"award-info":[{"award-number":["JP21k15097"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1007\/s00439-021-02416-7","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T19:05:35Z","timestamp":1642187135000},"page":"283-293","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant"],"prefix":"10.1007","volume":"141","author":[{"given":"Kohei","family":"Hamanaka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Miyoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Hui","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Hamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Komatsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Saida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Tsuchida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Uchiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedicte","family":"Gerard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berardo","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Stone","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuniaki","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,15]]},"reference":[{"key":"2416_CR1","doi-asserted-by":"publisher","first-page":"146","DOI":"10.4161\/chan.24380","volume":"7","author":"M Abdelsayed","year":"2013","unstructured":"Abdelsayed M, Sokolov S (2013) Voltage-gated sodium channels: pharmaceutical targets via anticonvulsants to treat epileptic syndromes. Channels (austin) 7:146\u2013152. https:\/\/doi.org\/10.4161\/chan.24380","journal-title":"Channels (austin)"},{"key":"2416_CR2","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"2416_CR3","doi-asserted-by":"publisher","first-page":"e130","DOI":"10.1212\/nxg.0000000000000130","volume":"3","author":"RC Ahrens-Nicklas","year":"2017","unstructured":"Ahrens-Nicklas RC et al (2017) Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet 3:e130. https:\/\/doi.org\/10.1212\/nxg.0000000000000130","journal-title":"Neurol Genet"},{"key":"2416_CR4","doi-asserted-by":"publisher","first-page":"e12","DOI":"10.1111\/epi.13250","volume":"57","author":"NM Allen","year":"2016","unstructured":"Allen NM et al (2016) Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion. Epilepsia 57:e12-17. https:\/\/doi.org\/10.1111\/epi.13250","journal-title":"Epilepsia"},{"key":"2416_CR5","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1002\/humu.24012","volume":"41","author":"MC Aspromonte","year":"2020","unstructured":"Aspromonte MC et al (2020) Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Hum Mutat 41:1183. https:\/\/doi.org\/10.1002\/humu.24012","journal-title":"Hum Mutat"},{"key":"2416_CR6","doi-asserted-by":"publisher","first-page":"3312","DOI":"10.1073\/pnas.0611511104","volume":"104","author":"J Bischof","year":"2007","unstructured":"Bischof J, Maeda RK, Hediger M, Karch F, Basler K (2007) An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases. Proc Natl Acad Sci USA 104:3312\u20133317. https:\/\/doi.org\/10.1073\/pnas.0611511104","journal-title":"Proc Natl Acad Sci USA"},{"key":"2416_CR7","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/361031a0","volume":"361","author":"TV Bliss","year":"1993","unstructured":"Bliss TV, Collingridge GL (1993) A synaptic model of memory: long-term potentiation in the hippocampus. Nature 361:31\u201339. https:\/\/doi.org\/10.1038\/361031a0","journal-title":"Nature"},{"key":"2416_CR8","doi-asserted-by":"publisher","first-page":"1280","DOI":"10.1002\/ajmg.a.32858","volume":"149a","author":"C Bonnet","year":"2009","unstructured":"Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P (2009) Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet Part A 149a:1280\u20131289. https:\/\/doi.org\/10.1002\/ajmg.a.32858","journal-title":"Am J Med Genet Part A"},{"key":"2416_CR9","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1016\/s0896-6273(03)00640-8","volume":"40","author":"DS Bredt","year":"2003","unstructured":"Bredt DS, Nicoll RA (2003) AMPA receptor trafficking at excitatory synapses. Neuron 40:361\u2013379. https:\/\/doi.org\/10.1016\/s0896-6273(03)00640-8","journal-title":"Neuron"},{"key":"2416_CR10","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1111\/cge.13102","volume":"93","author":"E Ch\u00e9rot","year":"2018","unstructured":"Ch\u00e9rot E et al (2018) Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of 2 clinical units and 216 patients. Clin Genet 93:567\u2013576. https:\/\/doi.org\/10.1111\/cge.13102","journal-title":"Clin Genet"},{"key":"2416_CR11","doi-asserted-by":"publisher","first-page":"1448","DOI":"10.1002\/ajmg.a.31798","volume":"143a","author":"T Chiyonobu","year":"2007","unstructured":"Chiyonobu T et al (2007) Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet Part A 143a:1448\u20131455. https:\/\/doi.org\/10.1002\/ajmg.a.31798","journal-title":"Am J Med Genet Part A"},{"key":"2416_CR12","doi-asserted-by":"publisher","first-page":"3869","DOI":"10.1093\/hmg\/ddx270","volume":"26","author":"B Davies","year":"2017","unstructured":"Davies B et al (2017) A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. Hum Mol Genet 26:3869\u20133882. https:\/\/doi.org\/10.1093\/hmg\/ddx270","journal-title":"Hum Mol Genet"},{"key":"2416_CR13","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/j.1442-200X.1961.tb01032.x","volume":"4","author":"M Enjoji","year":"1961","unstructured":"Enjoji M, Yanai N (1961) Analytic test for development in infancy and childhood. Pediatr Int 4:2\u20136. https:\/\/doi.org\/10.1111\/j.1442-200X.1961.tb01032.x","journal-title":"Pediatr Int"},{"key":"2416_CR14","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.3389\/fnins.2019.01135","volume":"13","author":"A Fern\u00e1ndez-Marmiesse","year":"2019","unstructured":"Fern\u00e1ndez-Marmiesse A et al (2019) Rare variants in 48 genes account for 42% of cases of epilepsy with or without neurodevelopmental delay in 246 pediatric patients. Front Neurosci 13:1135. https:\/\/doi.org\/10.3389\/fnins.2019.01135","journal-title":"Front Neurosci"},{"key":"2416_CR15","doi-asserted-by":"publisher","first-page":"W35","DOI":"10.1093\/nar\/gkn211","volume":"36","author":"M Garcia-Boronat","year":"2008","unstructured":"Garcia-Boronat M, Diez-Rivero CM, Reinherz EL, Reche PA (2008) PVS: a web server for protein sequence variability analysis tuned to facilitate conserved epitope discovery. Nucleic Acids Res 36:W35-41. https:\/\/doi.org\/10.1093\/nar\/gkn211","journal-title":"Nucleic Acids Res"},{"key":"2416_CR16","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1111\/cns.12399","volume":"21","author":"AC Gauthier","year":"2015","unstructured":"Gauthier AC, Mattson RH (2015) Clobazam: a safe efficacious, and newly rediscovered therapeutic for epilepsy. CNS Neurosci Ther 21:543\u2013548. https:\/\/doi.org\/10.1111\/cns.12399","journal-title":"CNS Neurosci Ther"},{"key":"2416_CR17","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1006\/geno.1999.6032","volume":"62","author":"J Gecz","year":"1999","unstructured":"Gecz J et al (1999) Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics 62:356\u2013368. https:\/\/doi.org\/10.1006\/geno.1999.6032","journal-title":"Genomics"},{"key":"2416_CR18","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1038\/nn.4589","volume":"20","author":"MR Geisheker","year":"2017","unstructured":"Geisheker MR et al (2017) Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci 20:1043\u20131051. https:\/\/doi.org\/10.1038\/nn.4589","journal-title":"Nat Neurosci"},{"key":"2416_CR19","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1002\/path.5351","volume":"250","author":"JM Gregory","year":"2020","unstructured":"Gregory JM, Livesey MR, McDade K, Selvaraj BT, Barton SK, Chandran S, Smith C (2020) Dysregulation of AMPA receptor subunit expression in sporadic ALS post-mortem brain. J Pathol 250:67\u201378. https:\/\/doi.org\/10.1002\/path.5351","journal-title":"J Pathol"},{"key":"2416_CR20","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/s0022-2836(02)00442-4","volume":"320","author":"R Guerois","year":"2002","unstructured":"Guerois R, Nielsen JE, Serrano L (2002) Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol 320:369\u2013387. https:\/\/doi.org\/10.1016\/s0022-2836(02)00442-4","journal-title":"J Mol Biol"},{"key":"2416_CR21","doi-asserted-by":"publisher","first-page":"3741","DOI":"10.1242\/dev.125.18.3741","volume":"125","author":"DJ Hazelett","year":"1998","unstructured":"Hazelett DJ, Bourouis M, Walldorf U, Treisman JE (1998) decapentaplegic and wingless are regulated by eyes absent and eyegone and interact to direct the pattern of retinal differentiation in the eye disc. Development (cambridge, England) 125:3741\u20133751","journal-title":"Development (cambridge, England)"},{"key":"2416_CR22","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1038\/nrn.2016.37","volume":"17","author":"JM Henley","year":"2016","unstructured":"Henley JM, Wilkinson KA (2016) Synaptic AMPA receptor composition in development, plasticity and disease. Nat Rev Neurosci 17:337\u2013350. https:\/\/doi.org\/10.1038\/nrn.2016.37","journal-title":"Nat Rev Neurosci"},{"key":"2416_CR23","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1038\/jhg.2016.12","volume":"61","author":"K Higasa","year":"2016","unstructured":"Higasa K et al (2016) Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet 61:547\u2013553. https:\/\/doi.org\/10.1038\/jhg.2016.12","journal-title":"J Hum Genet"},{"key":"2416_CR24","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581:434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"key":"2416_CR25","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.229102","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D (2002) The human genome browser at UCSC. Genome Res 12:996\u20131006. https:\/\/doi.org\/10.1101\/gr.229102","journal-title":"Genome Res"},{"key":"2416_CR26","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1534\/genetics.113.156737","volume":"195","author":"S Kondo","year":"2013","unstructured":"Kondo S, Ueda R (2013) Highly improved gene targeting by germline-specific Cas9 expression in Drosophila. Genetics 195:715\u2013721. https:\/\/doi.org\/10.1534\/genetics.113.156737","journal-title":"Genetics"},{"key":"2416_CR27","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081. https:\/\/doi.org\/10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"key":"2416_CR28","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s13073-020-00725-6","volume":"12","author":"D Lal","year":"2020","unstructured":"Lal D et al (2020) Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med 12:28. https:\/\/doi.org\/10.1186\/s13073-020-00725-6","journal-title":"Genome Med"},{"key":"2416_CR29","doi-asserted-by":"publisher","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","volume":"42","author":"MJ Landrum","year":"2014","unstructured":"Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42:D980-985. https:\/\/doi.org\/10.1093\/nar\/gkt1113","journal-title":"Nucleic Acids Res"},{"key":"2416_CR30","doi-asserted-by":"publisher","first-page":"9654","DOI":"10.1073\/pnas.90.20.9654","volume":"90","author":"S Maren","year":"1993","unstructured":"Maren S, Tocco G, Standley S, Baudry M, Thompson RF (1993) Postsynaptic factors in the expression of long-term potentiation (LTP): increased glutamate receptor binding following LTP induction in vivo. Proc Natl Acad Sci USA 90:9654\u20139658. https:\/\/doi.org\/10.1073\/pnas.90.20.9654","journal-title":"Proc Natl Acad Sci USA"},{"key":"2416_CR31","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1038\/ng.101","volume":"40","author":"M Markstein","year":"2008","unstructured":"Markstein M, Pitsouli C, Villalta C, Celniker SE, Perrimon N (2008) Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes. Nat Genet 40:476\u2013483. https:\/\/doi.org\/10.1038\/ng.101","journal-title":"Nat Genet"},{"key":"2416_CR32","doi-asserted-by":"publisher","first-page":"8018","DOI":"10.1038\/ncomms9018","volume":"6","author":"M Nagasaki","year":"2015","unstructured":"Nagasaki M et al (2015) Rare variant discovery by deep whole-genome sequencing of 1070 Japanese individuals. Nat Commun 6:8018. https:\/\/doi.org\/10.1038\/ncomms9018","journal-title":"Nat Commun"},{"key":"2416_CR33","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1101\/gr.252601.119","volume":"30","author":"E P\u00e9rez-Palma","year":"2020","unstructured":"P\u00e9rez-Palma E et al (2020) Identification of pathogenic variant enriched regions across genes and gene families. Genome Res 30:62\u201371. https:\/\/doi.org\/10.1101\/gr.252601.119","journal-title":"Genome Res"},{"key":"2416_CR34","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1002\/ajmg.a.35307","volume":"161a","author":"A Philippe","year":"2013","unstructured":"Philippe A et al (2013) Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. Am J Med Genet Part A 161a:1370\u20131375. https:\/\/doi.org\/10.1002\/ajmg.a.35307","journal-title":"Am J Med Genet Part A"},{"key":"2416_CR35","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1186\/1750-1172-9-49","volume":"9","author":"AK Philips","year":"2014","unstructured":"Philips AK et al (2014) X-exome sequencing in Finnish families with intellectual disability-four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis 9:49. https:\/\/doi.org\/10.1186\/1750-1172-9-49","journal-title":"Orphanet J Rare Dis"},{"key":"2416_CR36","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/j.tvjl.2005.11.007","volume":"173","author":"SR Platt","year":"2007","unstructured":"Platt SR (2007) The role of glutamate in central nervous system health and disease\u2014a review. Vet J (london England: 1997) 173:278\u2013286. https:\/\/doi.org\/10.1016\/j.tvjl.2005.11.007","journal-title":"Vet J (london England: 1997)"},{"key":"2416_CR37","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47:D886-d894. https:\/\/doi.org\/10.1093\/nar\/gky1016","journal-title":"Nucleic Acids Res"},{"key":"2416_CR38","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med off J Am Coll Med Genet 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med off J Am Coll Med Genet"},{"key":"2416_CR39","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1038\/s10038-020-00853-2","volume":"66","author":"M Sakamoto","year":"2021","unstructured":"Sakamoto M et al (2021) Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. J Hum Genet 66:401\u2013407. https:\/\/doi.org\/10.1038\/s10038-020-00853-2","journal-title":"J Hum Genet"},{"key":"2416_CR40","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575\u2013576. https:\/\/doi.org\/10.1038\/nmeth0810-575","journal-title":"Nat Methods"},{"key":"2416_CR41","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1007\/s00415-015-7984-0","volume":"263","author":"N Schwarz","year":"2016","unstructured":"Schwarz N et al (2016) Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 263:334\u2013343. https:\/\/doi.org\/10.1007\/s00415-015-7984-0","journal-title":"J Neurol"},{"key":"2416_CR42","doi-asserted-by":"publisher","first-page":"W382","DOI":"10.1093\/nar\/gki387","volume":"33","author":"J Schymkowitz","year":"2005","unstructured":"Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L (2005) The FoldX web server: an online force field. Nucleic Acids Res 33:W382-388. https:\/\/doi.org\/10.1093\/nar\/gki387","journal-title":"Nucleic Acids Res"},{"key":"2416_CR43","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/j.neuropharm.2007.08.016","volume":"53","author":"M Sitges","year":"2007","unstructured":"Sitges M, Guarneros A, Nekrassov V (2007) Effects of carbamazepine, phenytoin, valproic acid, oxcarbazepine, lamotrigine, topiramate and vinpocetine on the presynaptic Ca2+ channel-mediated release of [3H]glutamate: comparison with the Na+ channel-mediated release. Neuropharmacology 53:854\u2013862. https:\/\/doi.org\/10.1016\/j.neuropharm.2007.08.016","journal-title":"Neuropharmacology"},{"key":"2416_CR44","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1007\/s11064-015-1749-0","volume":"41","author":"M Sitges","year":"2016","unstructured":"Sitges M, Chiu LM, Reed RC (2016) Effects of levetiracetam, carbamazepine, phenytoin, valproate, lamotrigine, oxcarbazepine, topiramate, vinpocetine and sertraline on presynaptic hippocampal Na(+) and Ca(2+) channels permeability. Neurochem Res 41:758\u2013769. https:\/\/doi.org\/10.1007\/s11064-015-1749-0","journal-title":"Neurochem Res"},{"key":"2416_CR45","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1002\/humu.10212","volume":"21","author":"PD Stenson","year":"2003","unstructured":"Stenson PD et al (2003) Human gene mutation database (HGMD): 2003 update. Hum Mutat 21:577\u2013581. https:\/\/doi.org\/10.1002\/humu.10212","journal-title":"Hum Mutat"},{"key":"2416_CR46","doi-asserted-by":"publisher","first-page":"e1009608","DOI":"10.1371\/journal.pgen.1009608","volume":"17","author":"JH Sun","year":"2021","unstructured":"Sun JH et al (2021) X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. PLoS Genet 17:e1009608. https:\/\/doi.org\/10.1371\/journal.pgen.1009608","journal-title":"PLoS Genet"},{"key":"2416_CR47","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/nature23479","volume":"549","author":"EC Twomey","year":"2017","unstructured":"Twomey EC, Yelshanskaya MV, Grassucci RA, Frank J, Sobolevsky AI (2017a) Channel opening and gating mechanism in AMPA-subtype glutamate receptors. Nature 549:60\u201365. https:\/\/doi.org\/10.1038\/nature23479","journal-title":"Nature"},{"key":"2416_CR48","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/j.neuron.2017.04.025","volume":"94","author":"EC Twomey","year":"2017","unstructured":"Twomey EC, Yelshanskaya MV, Grassucci RA, Frank J, Sobolevsky AI (2017b) Structural bases of desensitization in AMPA receptor-auxiliary subunit complexes. Neuron 94:569-580.e565. https:\/\/doi.org\/10.1016\/j.neuron.2017.04.025","journal-title":"Neuron"},{"key":"2416_CR49","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1002\/humu.23798","volume":"40","author":"L Wiel","year":"2019","unstructured":"Wiel L, Baakman C, Gilissen D, Veltman JA, Vriend G, Gilissen C (2019) MetaDome: pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. Hum Mutat 40:1030\u20131038. https:\/\/doi.org\/10.1002\/humu.23798","journal-title":"Hum Mutat"},{"key":"2416_CR50","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1093\/brain\/awx054","volume":"140","author":"M Wolff","year":"2017","unstructured":"Wolff M et al (2017) Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain J Neurol 140:1316\u20131336. https:\/\/doi.org\/10.1093\/brain\/awx054","journal-title":"Brain J Neurol"},{"key":"2416_CR51","doi-asserted-by":"publisher","first-page":"18163","DOI":"10.1073\/pnas.0708699104","volume":"104","author":"Y Wu","year":"2007","unstructured":"Wu Y et al (2007) Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci USA 104:18163\u201318168. https:\/\/doi.org\/10.1073\/pnas.0708699104","journal-title":"Proc Natl Acad Sci USA"},{"key":"2416_CR52","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2013.232","volume":"4","author":"Y Yang","year":"2013","unstructured":"Yang Y, Hou L, Li Y, Ni J, Liu L (2013) Neuronal necrosis and spreading death in a Drosophila genetic model. Cell Death Dis 4:e723. https:\/\/doi.org\/10.1038\/cddis.2013.232","journal-title":"Cell Death Dis"},{"key":"2416_CR53","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.1126\/science.1256508","volume":"345","author":"MV Yelshanskaya","year":"2014","unstructured":"Yelshanskaya MV, Li M, Sobolevsky AI (2014) Structure of an agonist-bound ionotropic glutamate receptor. Science (new York, NY) 345:1070\u20131074. https:\/\/doi.org\/10.1126\/science.1256508","journal-title":"Science (new York, NY)"},{"key":"2416_CR54","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1126\/science.284.5421.1805","volume":"284","author":"D Zamanillo","year":"1999","unstructured":"Zamanillo D et al (1999) Importance of AMPA receptors for hippocampal synaptic plasticity but not for spatial learning. Science (new York, NY) 284:1805\u20131811. https:\/\/doi.org\/10.1126\/science.284.5421.1805","journal-title":"Science (new York, NY)"},{"key":"2416_CR55","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1038\/42009","volume":"388","author":"J Zuo","year":"1997","unstructured":"Zuo J, De Jager PL, Takahashi KA, Jiang W, Linden DJ, Heintz N (1997) Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene. Nature 388:769\u2013773. https:\/\/doi.org\/10.1038\/42009","journal-title":"Nature"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02416-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-021-02416-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02416-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T12:42:58Z","timestamp":1643719378000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-021-02416-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,15]]},"references-count":55,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["2416"],"URL":"https:\/\/doi.org\/10.1007\/s00439-021-02416-7","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,15]]},"assertion":[{"value":"18 October 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"On behalf of all authors, the corresponding author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}]}}