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We identified three new de novo missense variants in <jats:italic>KCNC1<\/jats:italic> in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic\u2010clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). Functional analyses demonstrated no measurable currents for all identified variants and dominant\u2010negative effects for p.Thr399Met and p.Ala421Val predicting neuronal disinhibition as the underlying disease mechanism.<\/jats:p>","DOI":"10.1002\/acn3.50799","type":"journal-article","created":{"date-parts":[[2019,6,7]],"date-time":"2019-06-07T10:04:54Z","timestamp":1559901894000},"page":"1319-1326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["<i>KCNC1<\/i>\u2010related disorders: new de novo variants expand the phenotypic spectrum"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7996-5283","authenticated-orcid":false,"given":"Joohyun","family":"Park","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Koko","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike B. 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