{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T03:36:49Z","timestamp":1781581009740,"version":"3.54.5"},"reference-count":22,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:00:00Z","timestamp":1471564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM082773"],"award-info":[{"award-number":["GM082773"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>TBC1D24\u2010related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non\u2010syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). The <jats:italic>TBC1D24<\/jats:italic> gene has a role in cerebral cortex development and in presynaptic neurotransmission. Here, we present a familial case of a lethal early\u2010onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the <jats:italic>TBC1D24<\/jats:italic> gene, which were detected by exome sequencing. The detailed clinical data of the three siblings is summarized in order to support the variability of the phenotype, severity, and progression of this disorder among these family members. Functional studies demonstrated that the identified novel missense mutations result in a loss of expression of the protein, suggesting a correlation between residual expression, and the disease severity. This indicates that protein expression analysis is important for interpreting genetic results when novel variants are found, as well as for complementing clinical assessment by predicting the functional impact. Further analysis is necessary to delineate the clinical presentation of individuals with <jats:italic>TBC1D24<\/jats:italic> pathogenic variants, as well as to develop markers for diagnosis, prognosis, and potential targeted treatments. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37933","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T13:05:26Z","timestamp":1471611926000},"page":"3207-3214","source":"Crossref","is-referenced-by-count":23,"title":["Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Reymundo","family":"Lozano","sequence":"first","affiliation":[{"name":"Departments of Genetic and Genomic Sciences, Psychiatry, and Pediatrics Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Herman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics UC Davis Medical Center Medical Investigation of Neurodevelopmental Disorders (MIND) Institute Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Rothfuss","sequence":"additional","affiliation":[{"name":"Department of Pediatrics UC Davis Medical Center Medical Investigation of Neurodevelopmental Disorders (MIND) Institute Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hillary","family":"Rieger","sequence":"additional","affiliation":[{"name":"Departments of Genetic and Genomic Sciences, Psychiatry, and Pediatrics Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar","family":"Bayrak\u2010Toydemir","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Aprile","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine University of Genova Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floriana","family":"Fruscione","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience G. Gaslini Institute Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience G. Gaslini Institute Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Fassio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine University of Genova Genova Italy"},{"name":"Center of Synaptic Neuroscience and Technology Fondazione Istituto Italiano di Tecnologia Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22557"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138072"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31412"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70265-5"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.020"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1316294111"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201406026"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101313"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21517"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22318"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_6_18_1","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1186\/1471-2105-14-S13-S1","article-title":"VarRanker: Rapid prioritization of sequence variants associated with human disease","volume":"13","author":"O'Fallon BD","year":"2013","journal-title":"BMC Bioinformatics"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.12.011"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.02.039"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22558"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37933","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37933","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37933","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:40:31Z","timestamp":1696642831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37933"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,19]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37933"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37933","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,19]]}}}