{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:45:43Z","timestamp":1789865143926,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ATP6V1B2<\/jats:italic> pathogenic variants are linked with variable phenotypes, such as dominant deafness\u2010onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann\u2013Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [ID], and seizures). Epilepsy was first linked to <jats:italic>ATP6V1B2<\/jats:italic>, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but without characteristic features of DDOD or ZLS2 syndromes. We herein report a novel pathogenic ATP6V1B2:p.Glu374Gly variant detected in an adult patient with ID and myoclonic\u2010atonic seizures. The (re)occurrence of different variants affecting the same highly conserved hydrophilic glutamic acid on position 374 of the V\u2010proton ATPase subunit B, indicates a potential novel pathogenic hotspot and a critical role for the specific residue in the development of epilepsy. <jats:italic>ATP6V1B2<\/jats:italic> gene defects should be considered when analyzing patients with epilepsy, even in the absence of most cardinal features of DDOD, DOORS, or ZLS such as deafness, onychodystrophy, and osteodystrophy.<\/jats:p>","DOI":"10.1002\/ajmg.a.62971","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T12:14:31Z","timestamp":1663848871000},"page":"3563-3566","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel pathogenic <scp><i>ATP6V1B2<\/i><\/scp> variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6548-0928","authenticated-orcid":false,"given":"Danai","family":"Veltra","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine National &amp; Kapodistrian University of Athens, \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantina","family":"Kosma","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine National &amp; Kapodistrian University of Athens, \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antigoni","family":"Papavasiliou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Iaso Children's Hospital  Marousi Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faidon\u2010Nikolaos","family":"Tilemis","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine National &amp; Kapodistrian University of Athens, \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"},{"name":"Research University Institute for the Study of Genetic and Malignant Disease of Childhood \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Traeger\u2010Synodinos","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine National &amp; Kapodistrian University of Athens, \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3205-4287","authenticated-orcid":false,"given":"Christalena","family":"Sofocleous","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine National &amp; Kapodistrian University of Athens, \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"},{"name":"Research University Institute for the Study of Genetic and Malignant Disease of Childhood \u201cSt. Sophia's\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaz2924"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-00950-9"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)38179-1"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky471"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2020.1166"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.761"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0022-1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103799"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz482"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2014.77"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00767"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.06.035"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62971","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62971","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T13:05:19Z","timestamp":1692536719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,22]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/ajmg.a.62971"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62971","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,22]]},"assertion":[{"value":"2022-04-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}