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Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Here, we aimed to (a) characterize activation profiles of the motor system during different cognitive tasks in patients with JME and their unaffected siblings, and (b) validate those as endophenotypes of JME.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This prospective cross\u2010sectional investigation included 32 patients with JME, 12 unaffected siblings, and 26 controls, comparable for age, sex, handedness, language laterality, neuropsychological performance, and anxiety and depression scores. We investigated patterns of motor system activation during episodic memory encoding and verb generation functional magnetic resonance imaging (fMRI) tasks.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During both tasks, patients and unaffected siblings showed increased activation of motor system areas compared to controls. Effects were more prominent during memory encoding, which entailed hand motion via joystick responses. Subgroup analyses identified stronger activation of the motor cortex in JME patients with ongoing seizures compared to seizure\u2010free patients. Receiver\u2010operating characteristic curves, based on measures of motor activation, accurately discriminated both patients with JME and their siblings from healthy controls (area under the curve: 0.75 and 0.77, for JME and a combined patient\u2010sibling group against controls, respectively;<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.005).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Motor system hyperactivation represents a cognitive, domain\u2010independent endophenotype of JME. We propose measures of motor system activation as quantitative traits for future genetic imaging studies in this syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.16575","type":"journal-article","created":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T14:36:34Z","timestamp":1593095794000},"page":"1438-1452","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7189-9699","authenticated-orcid":false,"given":"Lorenzo","family":"Caciagli","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"MRI Unit Epilepsy Society Chalfont St Peter Buckinghamshire 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Academic Unit UCL Queen Square Institute of Neurology London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9203-5344","authenticated-orcid":false,"given":"Karin","family":"Trimmel","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"MRI Unit Epilepsy Society Chalfont St Peter Buckinghamshire UK"},{"name":"Department of Neurology Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5078-8770","authenticated-orcid":false,"given":"Lili","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"MRI Unit Epilepsy Society Chalfont St Peter Buckinghamshire UK"},{"name":"Department of Neurology Xiangya Hospital of Central South University 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