{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:02Z","timestamp":1781613662873,"version":"3.54.5"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C &gt;T\/p.Pro102Ser and c.410T\u2009&gt;\u2009C\/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.<\/jats:p>","DOI":"10.1055\/s-0039-1688410","type":"journal-article","created":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T22:46:20Z","timestamp":1561157180000},"page":"308-312","source":"Crossref","is-referenced-by-count":16,"title":["Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation"],"prefix":"10.1055","volume":"50","author":[{"given":"Vincent","family":"Zimmern","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, University of Texas Southwestern, Dallas, Texas, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Neurovasculaire, Groupe Hospitalier Saint-Louis-Lariboisi\u00e8re-Fernand-Widal, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Facult\u00e9 de M\u00e9decine ; CNRS UMR 7225, UMR S 1127 ; Institut du Cerveau et de la Moelle \u00e9pini\u00e8re; APHP, H\u00f4pital Salp\u00eatri\u00e8re, D\u00e9partement de Neurologie, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ranza","sequence":"additional","affiliation":[{"name":"Service of Genetic Medicine, University Hospitals, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Lehmann-Horn","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology, Ulm University, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julitta","family":"de Bellescize","sequence":"additional","affiliation":[{"name":"Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Ville","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence \u00ab D\u00e9ficiences Intellectuelles de causes rares \u00bb, H\u00f4pital Femme M\u00e8re Enfant, Hospices Civils de Lyon, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des anomalies du d\u00e9veloppement, Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian M.","family":"Korff","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2019,6,21]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1688410.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T22:31:26Z","timestamp":1568154686000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1688410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,21]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2019,9,10]]},"published-print":{"date-parts":[[2019,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1688410","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,21]]}}}