{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T12:58:13Z","timestamp":1793797093433,"version":"4.6.1"},"reference-count":74,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T00:00:00Z","timestamp":1601596800000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["19-16963S"],"award-info":[{"award-number":["19-16963S"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007457","name":"JPB Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011102","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["621368"],"award-info":[{"award-number":["621368"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013114","name":"Broad Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013114","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006435","name":"Central European Institute of Technology","doi-asserted-by":"publisher","award":["LM2015062"],"award-info":[{"award-number":["LM2015062"]}],"id":[{"id":"10.13039\/501100006435","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.ajhg.2020.02.015","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T10:35:23Z","timestamp":1585218923000},"page":"467-483","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"title":["Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures"],"prefix":"10.1016","volume":"106","author":[{"given":"Tiong Yang","family":"Tan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u00ed","family":"Sedm\u00edk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark P.","family":"Fitzgerald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka Sukenik","family":"Halevy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam P.","family":"Keegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Helbig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Basel-Salmon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lior","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Straussberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayada","family":"Helal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Sadedin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Pais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine B.","family":"Howell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary A.","family":"O\u2019Connell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2020.02.015_bib1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.bbagrm.2018.10.011","article-title":"ADAR RNA editing in innate immune response phasing, in circadian clocks and in sleep","volume":"1862","author":"Sinigaglia","year":"2019","journal-title":"Biochim. Biophys. Acta. Gene Regul. Mech."},{"key":"10.1016\/j.ajhg.2020.02.015_bib2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1093\/nar\/gky1163","article-title":"Inosine induces context-dependent recoding and translational stalling","volume":"47","author":"Licht","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.02.015_bib3","doi-asserted-by":"crossref","first-page":"37624","DOI":"10.1074\/jbc.M204126200","article-title":"Adenosine to inosine editing by ADAR2 requires formation of a ternary complex on the GluR-B R\/G site","volume":"277","author":"Jaikaran","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.02.015_bib4","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1261\/rna.2314406","article-title":"Dimerization of ADAR2 is mediated by the double-stranded RNA binding domain","volume":"12","author":"Poulsen","year":"2006","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2020.02.015_bib5","doi-asserted-by":"crossref","first-page":"16530","DOI":"10.1074\/jbc.M511831200","article-title":"FRET analysis of in\u00a0vivo dimerization by RNA-editing enzymes","volume":"281","author":"Chilibeck","year":"2006","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.02.015_bib6","doi-asserted-by":"crossref","first-page":"16054","DOI":"10.1074\/jbc.M611392200","article-title":"RNA binding-independent dimerization of adenosine deaminases acting on RNA and dominant negative effects of nonfunctional subunits on dimer functions","volume":"282","author":"Valente","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.02.015_bib7","doi-asserted-by":"crossref","first-page":"3421","DOI":"10.1093\/emboj\/cdg327","article-title":"An ADAR that edits transcripts encoding ion channel subunits functions as a dimer","volume":"22","author":"Gallo","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2020.02.015_bib8","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/ng.2414","article-title":"Mutations in ADAR1 cause Aicardi-Gouti\u00e8res syndrome associated with a type I interferon signature","volume":"44","author":"Rice","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.02.015_bib9","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/jmedgenet-2013-102038","article-title":"A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1","volume":"51","author":"Livingston","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2020.02.015_bib10","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1086\/378209","article-title":"Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria","volume":"73","author":"Miyamura","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.02.015_bib11","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1111\/j.1346-8138.2008.00540.x","article-title":"Dyschromatosis symmetrica hereditaria associated with neurological disorders","volume":"35","author":"Kondo","year":"2008","journal-title":"J.\u00a0Dermatol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib12","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1002\/mds.21011","article-title":"Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation","volume":"21","author":"Tojo","year":"2006","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2020.02.015_bib13","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00401-010-0678-x","article-title":"TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2","volume":"120","author":"Aizawa","year":"2010","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib14","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.gene.2005.07.028","article-title":"Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites","volume":"363","author":"Kawahara","year":"2005","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2020.02.015_bib15","first-page":"453","article-title":"Two forms of human double-stranded RNA-specific editase 1 (hRED1) generated by the insertion of an Alu cassette","volume":"3","author":"Gerber","year":"1997","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2020.02.015_bib16","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1128\/MCB.17.5.2413","article-title":"Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases","volume":"17","author":"Lai","year":"1997","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib17","doi-asserted-by":"crossref","first-page":"E79","DOI":"10.3390\/genes9020079","article-title":"Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain","volume":"9","author":"Filippini","year":"2018","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.ajhg.2020.02.015_bib18","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/nature24041","article-title":"Dynamic landscape and regulation of RNA editing in mammals","volume":"550","author":"Tan","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.02.015_bib19","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0092-8674(91)90568-J","article-title":"RNA editing in brain controls a determinant of ion flow in glutamate-gated channels","volume":"67","author":"Sommer","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.02.015_bib20","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S0896-6273(03)00668-8","article-title":"AMPA receptor tetramerization is mediated by Q\/R editing","volume":"40","author":"Greger","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2020.02.015_bib21","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/S0896-6273(02)00693-1","article-title":"RNA editing at arg607 controls AMPA receptor exit from the endoplasmic reticulum","volume":"34","author":"Greger","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2020.02.015_bib22","doi-asserted-by":"crossref","first-page":"3094","DOI":"10.1038\/s41467-019-10910-w","article-title":"AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders","volume":"10","author":"Salpietro","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.02.015_bib23","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0378-1119(02)01016-8","article-title":"Phylogenetic comparison of the pre-mRNA adenosine deaminase ADAR2 genes and transcripts: conservation and diversity in editing site sequence and alternative splicing patterns","volume":"299","author":"Slavov","year":"2002","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2020.02.015_bib24","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The Matchmaker Exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.02.015_bib25","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.02.015_bib26","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2020.02.015_bib27","doi-asserted-by":"crossref","first-page":"e001887","DOI":"10.1161\/CIRCGEN.117.001887","article-title":"Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults","volume":"11","author":"Zhu","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.ajhg.2020.02.015_bib28","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1038\/emboj.2009.244","article-title":"Editing independent effects of ADARs on the miRNA\/siRNA pathways","volume":"28","author":"Heale","year":"2009","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2020.02.015_bib29","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.gene.2008.09.021","article-title":"Rapid generation of splicing reporters with pSpliceExpress","volume":"427","author":"Kishore","year":"2008","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2020.02.015_bib30","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2020.02.015_bib31","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.cell.2010.09.026","article-title":"The solution structure of the ADAR2 dsRBM-RNA complex reveals a sequence-specific readout of the minor groove","volume":"143","author":"Stefl","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.02.015_bib32","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/nsmb.3203","article-title":"Structures of human ADAR2 bound to dsRNA reveal base-flipping mechanism and basis for site selectivity","volume":"23","author":"Matthews","year":"2016","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib33","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1126\/science.8178170","article-title":"Rules for alpha-helix termination by glycine","volume":"264","author":"Aurora","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.02.015_bib34","first-page":"1875","article-title":"RNA recognition by double-stranded RNA binding domains: a matter of shape and sequence","volume":"70","author":"Masliah","year":"2013","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ajhg.2020.02.015_bib35","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.celrep.2014.10.041","article-title":"The RNA-editing enzyme ADAR1 controls\u00a0innate immune responses to RNA","volume":"9","author":"Mannion","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2020.02.015_bib36","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/s13059-017-1324-x","article-title":"Editing inducer elements increases A-to-I editing efficiency in the mammalian transcriptome","volume":"18","author":"Daniel","year":"2017","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib37","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1074\/jbc.270.6.2601","article-title":"Mutational analysis of the double-stranded RNA (dsRNA) binding domain of the dsRNA-activated protein kinase, PKR","volume":"270","author":"McMillan","year":"1995","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.02.015_bib38","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1093\/emboj\/19.5.997","article-title":"RNA recognition by a Staufen double-stranded RNA-binding domain","volume":"19","author":"Ramos","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2020.02.015_bib39","doi-asserted-by":"crossref","first-page":"14018","DOI":"10.1073\/pnas.2336131100","article-title":"Modulation of RNA editing by functional nucleolar sequestration of ADAR2","volume":"100","author":"Sansam","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2020.02.015_bib40","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1242\/jcs.00371","article-title":"Dynamic association of RNA-editing enzymes with the nucleolus","volume":"116","author":"Desterro","year":"2003","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2020.02.015_bib41","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/humu.21458","article-title":"Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6","volume":"32","author":"Raponi","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.02.015_bib42","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/nar\/gkg616","article-title":"ESEfinder: A web resource to identify exonic splicing enhancers","volume":"31","author":"Cartegni","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.02.015_bib43","doi-asserted-by":"crossref","first-page":"2490","DOI":"10.1093\/hmg\/ddl171","article-title":"An increased specificity score matrix for the prediction of SF2\/ASF-specific exonic splicing enhancers","volume":"15","author":"Smith","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2020.02.015_bib44","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/S1474-4422(15)00250-1","article-title":"The genetic landscape of the epileptic encephalopathies of infancy and childhood","volume":"15","author":"McTague","year":"2016","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib45","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1002\/ana.25248","article-title":"De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy","volume":"83","author":"Ambrosino","year":"2018","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib46","doi-asserted-by":"crossref","first-page":"X18767738","DOI":"10.1177\/2329048X18767738","article-title":"De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms","volume":"5","author":"Duan","year":"2018","journal-title":"Child Neurol. Open"},{"key":"10.1016\/j.ajhg.2020.02.015_bib47","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1684\/epd.2018.1011","article-title":"KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures","volume":"20","author":"Freibauer","year":"2018","journal-title":"Epileptic Disord."},{"key":"10.1016\/j.ajhg.2020.02.015_bib48","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1001\/archneurol.2011.98","article-title":"Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy","volume":"68","author":"Freilich","year":"2011","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib49","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1111\/epi.13794","article-title":"Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype","volume":"58","author":"Gorman","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.ajhg.2020.02.015_bib50","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1212\/WNL.0000000000001926","article-title":"SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures","volume":"85","author":"Howell","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2020.02.015_bib51","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.seizure.2019.03.010","article-title":"Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders","volume":"69","author":"Komulainen-Ebrahim","year":"2019","journal-title":"Seizure"},{"key":"10.1016\/j.ajhg.2020.02.015_bib52","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1002\/ana.23998","article-title":"SLC25A22 is a novel gene for migrating partial seizures in infancy","volume":"74","author":"Poduri","year":"2013","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib53","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.mcn.2016.01.004","article-title":"Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy","volume":"72","author":"Rizzo","year":"2016","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.ajhg.2020.02.015_bib54","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1055\/s-0038-1626708","article-title":"Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins","volume":"49","author":"\u0160t\u011brbov\u00e1","year":"2018","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajhg.2020.02.015_bib55","doi-asserted-by":"crossref","first-page":"8038","DOI":"10.1038\/ncomms9038","article-title":"Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures","volume":"6","author":"St\u00f6dberg","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.02.015_bib56","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/j.braindev.2018.03.005","article-title":"SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet","volume":"40","author":"Su","year":"2018","journal-title":"Brain Dev."},{"key":"10.1016\/j.ajhg.2020.02.015_bib57","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/35017558","article-title":"Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2","volume":"406","author":"Higuchi","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.02.015_bib58","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/S0896-6273(00)80225-1","article-title":"Enhanced LTP in mice deficient in the AMPA receptor GluR2","volume":"17","author":"Jia","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2020.02.015_bib59","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1126\/science.270.5242.1677","article-title":"Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice","volume":"270","author":"Brusa","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.02.015_bib60","doi-asserted-by":"crossref","first-page":"192","DOI":"10.4161\/rna.23208","article-title":"A high-throughput screen to identify enhancers of ADAR-mediated RNA-editing","volume":"10","author":"Garncarz","year":"2013","journal-title":"RNA Biol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib61","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1093\/nar\/gks1353","article-title":"RNA-interacting proteins act as site-specific repressors of ADAR2-mediated RNA editing and fluctuate upon neuronal stimulation","volume":"41","author":"Tariq","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.02.015_bib62","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1261\/rna.2750803","article-title":"Coordination of editing and splicing of glutamate receptor pre-mRNA","volume":"9","author":"Bratt","year":"2003","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2020.02.015_bib63","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/s42003-018-0271-8","article-title":"Regulation of RNA editing by RNA-binding proteins in human cells","volume":"2","author":"Quinones-Valdez","year":"2019","journal-title":"Commun Biol"},{"key":"10.1016\/j.ajhg.2020.02.015_bib64","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1038\/nn.2950","article-title":"Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein","volume":"14","author":"Bhogal","year":"2011","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2020.02.015_bib65","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1080\/15476286.2017.1338232","article-title":"Absence of the Fragile X Mental Retardation Protein results in defects of RNA editing of neuronal mRNAs in mouse","volume":"14","author":"Filippini","year":"2017","journal-title":"RNA Biol."},{"key":"10.1016\/j.ajhg.2020.02.015_bib66","doi-asserted-by":"crossref","first-page":"4211","DOI":"10.1038\/emboj.2011.303","article-title":"Pin1 and WWP2 regulate GluR2 Q\/R site RNA editing by ADAR2 with opposing effects","volume":"30","author":"Marcucci","year":"2011","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2020.02.015_bib67","doi-asserted-by":"crossref","first-page":"10436","DOI":"10.1093\/nar\/gkx667","article-title":"An RNA editing\/dsRNA binding-independent gene regulatory mechanism of ADARs and its clinical implication in cancer","volume":"45","author":"Qi","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.02.015_bib68","doi-asserted-by":"crossref","first-page":"e1005702","DOI":"10.1371\/journal.pgen.1005702","article-title":"Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish","volume":"11","author":"Shamay-Ramot","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2020.02.015_bib69","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.celrep.2018.03.118","article-title":"The Secretion of miR-200s by a PKC\u03b6\/ADAR2 Signaling Axis Promotes Liver Metastasis in Colorectal Cancer","volume":"23","author":"Shelton","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2020.02.015_bib70","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1126\/science.1113150","article-title":"Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing","volume":"309","author":"Macbeth","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.02.015_bib71","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S1097-2765(04)00181-9","article-title":"Minimal conditions for exonization of intronic sequences: 5\u2032 splice site formation in alu exons","volume":"14","author":"Sorek","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2020.02.015_bib72","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.celrep.2014.12.046","article-title":"The alternative splicing regulator Tra2b is required for somitogenesis and regulates splicing of an inhibitory Wnt11b isoform","volume":"10","author":"Dichmann","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2020.02.015_bib73","doi-asserted-by":"crossref","first-page":"e89020","DOI":"10.1371\/journal.pone.0089020","article-title":"Neuronal-specific deficiency of the splicing factor Tra2b causes apoptosis in neurogenic areas of the developing mouse brain","volume":"9","author":"Storbeck","year":"2014","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2020.02.015_bib74","doi-asserted-by":"crossref","first-page":"3415","DOI":"10.1093\/bioinformatics\/btr594","article-title":"Cascade detection for the extraction of localized sequence features; specificity results for HIV-1 protease and structure-function results for the Schellman loop","volume":"27","author":"Newell","year":"2011","journal-title":"Bioinformatics"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720300574?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720300574?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:18:46Z","timestamp":1762078726000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929720300574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":74,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0002929720300574"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.02.015","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.02.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}