{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:59:15Z","timestamp":1789498755559,"version":"build-2803163510"},"reference-count":57,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p><jats:italic>KCTD7<\/jats:italic>\u2010related progressive myoclonic epilepsy (PME) is a rare autosomal\u2010recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Families with molecularly confirmed diagnoses of <jats:italic>KCTD7<\/jats:italic>\u2010related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging\u2010related variables were collected and summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010two patients (36 families) were included. The median age at first seizure was 14\u2009months (interquartile range\u2009=\u200911.75\u201322.5). Myoclonic seizures were frequently the first seizure type noted (<jats:italic>n<\/jats:italic>\u2009=\u200918, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (<jats:italic>n<\/jats:italic>\u2009=\u200916, 38.1%). Twenty\u2010one cases with genetic testing available (55%) had previously reported variants in <jats:italic>KCTD<\/jats:italic>7, and 17 cases (45%) had novel variants in <jats:italic>KCTD7<\/jats:italic> gene. Six patients died in the cohort (age range\u2009=\u20091.5\u201321\u2009years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of <jats:italic>KCTD7<\/jats:italic>\u2010related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (<jats:italic>n<\/jats:italic>\u2009=\u200952, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (<jats:italic>n<\/jats:italic>\u2009=\u20092), myoclonus dystonia (<jats:italic>n<\/jats:italic>\u2009=\u20092), and neuronal ceroid lipofuscinosis (<jats:italic>n<\/jats:italic>\u2009=\u20093). Eight published cases died over time (14%, age range\u2009=\u20093\u201318\u2009years).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>This study cohort and systematic review consolidated the phenotypic spectrum and natural history of <jats:italic>KCTD7<\/jats:italic>\u2010related disorders. Early onset drug\u2010resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.17880","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T18:02:48Z","timestamp":1705514568000},"page":"709-724","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp><i>KCTD7<\/i><\/scp>\u2010related progressive myoclonic epilepsy: Report of 42\u00a0cases and review of literature"],"prefix":"10.1111","volume":"65","author":[{"given":"Sangeetha","family":"Yoganathan","sequence":"first","affiliation":[{"name":"Department of Neurological Sciences Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6851-0646","authenticated-orcid":false,"given":"Robyn","family":"Whitney","sequence":"additional","affiliation":[{"name":"Comprehensive Pediatric Epilepsy Program, Division of Neurology, Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumita","family":"Danda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akbar Mohamed","family":"Chettali","sequence":"additional","affiliation":[{"name":"Department of Child Health Royal Hospital  Muscat Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuri N.","family":"Prasad","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Clinical Neurosciences, Department of Pediatrics Children's Hospital, London Health Sciences Centre  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sali M. 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