{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T23:04:49Z","timestamp":1791846289798,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T00:00:00Z","timestamp":1521072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>The association between <jats:italic>KCTD3<\/jats:italic> gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in <jats:italic>KCTD3<\/jats:italic> gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy\u2010Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination. One patient also had a multicystic kidney. Whole exome sequencing revealed 2 probably pathogenic homozygous variants in <jats:italic>KCTD3<\/jats:italic> gene that fully segregated with the disease. <jats:italic>KCTD3<\/jats:italic> gene belongs to a family of accessory subunits that regulate the biophysical properties of ion channels, and is highly expressed in the kidney and brain. In this largest series to date on <jats:italic>KCTD3<\/jats:italic>\u2010mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging.<\/jats:p>","DOI":"10.1111\/cge.13227","type":"journal-article","created":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T14:53:13Z","timestamp":1517928793000},"page":"1081-1086","source":"Crossref","is-referenced-by-count":24,"title":["Phenotypic characterization of <i>KCTD3<\/i>\u2010related developmental epileptic encephalopathy"],"prefix":"10.1111","volume":"93","author":[{"given":"E.A.","family":"Faqeih","sequence":"first","affiliation":[{"name":"Section of Medial Genetics, Department of Pediatrics Subspecialties Children's Specialized Hospital, King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-9879","authenticated-orcid":false,"given":"M.","family":"Almannai","sequence":"additional","affiliation":[{"name":"Section of Medial Genetics, Department of Pediatrics Subspecialties Children's Specialized Hospital, King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.M.","family":"Saleh","sequence":"additional","affiliation":[{"name":"Section of Medial Genetics, Department of Pediatrics Subspecialties Children's Specialized Hospital, King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.H.","family":"AlWadei","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology National Neuroscience Institute, King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.M.","family":"Samman","sequence":"additional","affiliation":[{"name":"Pathology and Clinical Laboratory Administration, Section of Molecular Pathology King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"F.S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31398"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1386766"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.28"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.434803"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.111.246173"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.146"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.12.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2001.042suppl.3023.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.04.005"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-014-0301-2"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T15:13:13Z","timestamp":1695568393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,15]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1111\/cge.13227"],"URL":"https:\/\/doi.org\/10.1111\/cge.13227","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,15]]}}}