{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:13:58Z","timestamp":1792804438228,"version":"4.5.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Originally described as a risk factor for autism, <jats:italic>CHD8<\/jats:italic> loss\u2010of\u2010function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the <jats:italic>CHD8<\/jats:italic>\u2010related phenotype with the description of two unrelated patients who presented with childhood\u2010onset progressive dystonia. Whole\u2010exome sequencing conducted in two independent laboratories revealed a <jats:italic>CHD8<\/jats:italic> nonsense variant in one patient and a frameshift variant in the second. The patients had strongly overlapping phenotypes characterized by generalized dystonia with mild\u2010to\u2010moderate neurodevelopmental comorbidity. Deep brain stimulation led to clinical improvement in both cases. We suggest that <jats:italic>CHD8<\/jats:italic> should be added to the growing list of neurodevelopmental disorder\u2010associated genes whose mutations can also result in dystonia\u2010dominant phenotypes.<\/jats:p>","DOI":"10.1002\/acn3.51444","type":"journal-article","created":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T12:17:10Z","timestamp":1629461830000},"page":"1986-1990","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Childhood\u2010onset progressive dystonia associated with pathogenic truncating variants in <i>CHD8<\/i>"],"prefix":"10.1002","volume":"8","author":[{"given":"Diane","family":"Doummar","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department Movement Disorders Center Armand Trousseau Hospital AP\u2010HP.Sorbonne Universite\u0301 Paris 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Institute of Human Genetics Technical University of Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Demailly","sequence":"additional","affiliation":[{"name":"De\u0301partement de Neurochirurgie Unite\u0301 des Pathologies Ce\u0301re\u0301brales Re\u0301sistantes Unite\u0301 de Recherche sur les Comportements et Mouvements Anormaux H\u00f4pital Gui de Chauliac Centre Hospitalier Re\u0301gional Montpellier Montpellier France"},{"name":"Faculte\u0301 de me\u0301decine Universite\u0301 de Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cif","sequence":"additional","affiliation":[{"name":"De\u0301partement de Neurochirurgie Unite\u0301 des Pathologies Ce\u0301re\u0301brales Re\u0301sistantes Unite\u0301 de Recherche sur les Comportements et Mouvements Anormaux H\u00f4pital Gui de Chauliac Centre Hospitalier Re\u0301gional Montpellier Montpellier France"},{"name":"Faculte\u0301 de 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