{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T05:43:46Z","timestamp":1782539026518,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T00:00:00Z","timestamp":1595894400000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ATP6V1B2<\/jats:italic> encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. <jats:italic>De novo<\/jats:italic> monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann\u2010Laband syndrome 2 (ZLS2), an intellectual deficiency\/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation syndrome without cognitive involvement. Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann\u2010Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in <jats:italic>KCNH1<\/jats:italic>) and Zimmermann\u2010Laband syndrome\u2010like (ZLSL) (associated with <jats:italic>KCNK4<\/jats:italic> variants).<\/jats:p><jats:p>Herein, we report a case of an infant with severe epileptic encephalopathy with microcephaly and profound developmental delay, associated with a novel <jats:italic>de novo<\/jats:italic> loss\u2010of\u2010function variant in <jats:italic>ATP6V1B2<\/jats:italic>, diagnosed by whole\u2010exome sequencing. This finding expands the spectrum of <jats:italic>ATP6V1B2<\/jats:italic>\u2010associated disorders and adds <jats:italic>ATP6V1B2<\/jats:italic> as a new member for the growing list of early\u2010onset epileptic encephalopathy genes. [<jats:italic>Published with video sequence<\/jats:italic>].<\/jats:p>","DOI":"10.1684\/epd.2020.1166","type":"journal-article","created":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T13:01:14Z","timestamp":1593435674000},"page":"317-322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>ATP6V1B2<\/i>\u2010related epileptic encephalopathy"],"prefix":"10.1002","volume":"22","author":[{"given":"Luciana Midori","family":"Inuzuka","sequence":"first","affiliation":[{"name":"Epilepsy Clinic Hospital S\u00edrio\u2010Liban\u00eas  S\u00e3o Paulo Brazil"},{"name":"Department of Neurology University of S\u00e3o Paulo School of Medicine  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00facia In\u00eas","family":"Macedo\u2010Souza","sequence":"additional","affiliation":[{"name":"Department of Neurology University of S\u00e3o Paulo School of Medicine  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Della\u2010Rippa","sequence":"additional","affiliation":[{"name":"Department of Neurology University of S\u00e3o Paulo School of Medicine  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola Paoli","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Mendelics Genomic Analysis  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel de Souza","family":"Delgado","sequence":"additional","affiliation":[{"name":"Radiology Department Hospital S\u00edrio\u2010Liban\u00eas  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Filipe","family":"Godoy","sequence":"additional","affiliation":[{"name":"Radiology Department Hospital S\u00edrio\u2010Liban\u00eas  S\u00e3o Paulo 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S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.001"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.012"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1590-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2014.01.018"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0830"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0304-4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.761"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0022-1"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_12_1","article-title":"EXOME REPORT: novel mutation in segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities","volume":"23","author":"Shaw M.","year":"2019","journal-title":"Eur J Med Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2014.77"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.06.035"}],"container-title":["Epileptic 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