{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:11:36Z","timestamp":1783469496029,"version":"3.55.0"},"reference-count":18,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The TGen Foundation"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Mutations disrupting presynaptic\n                    <ns4:italic\/>\n                    protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the\n                    <ns4:italic>TBC1D24<\/ns4:italic>\n                    gene segregating within this family (c.1078C&gt;T; p.Arg360Cys and c.404C&gt;T; p.Pro135Leu). The female proband who presents with a severe neurological phenotype carries both of these mutations in a compound heterozygous state. The p.Pro135Leu variant, however, is present in the proband\u2019s mother and sibling as well, and is consistent with an autosomal dominant pattern linked to tonic-clonic and myoclonic epilepsy. In conclusion, we describe a single family in which\n                    <ns4:italic>TBC1D24<\/ns4:italic>\n                    mutations cause expanded dominant and recessive phenotypes. In addition, we discuss and highlight that some variants in\n                    <ns4:italic>TBC1D24<\/ns4:italic>\n                    might cause a dominant susceptibility to epilepsy\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.10588.1","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T10:35:04Z","timestamp":1493030104000},"page":"553","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":27,"title":["Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual 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The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}