{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T03:04:51Z","timestamp":1774407891137,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T00:00:00Z","timestamp":1543536000000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"Background and purpose<\/jats:title>The aim was to investigate whether abnormal TTTTA<\/jats:styled-content> and TTTCA<\/jats:styled-content> repeat expansions in introns of SAMD12<\/jats:italic>, TNRC<\/jats:styled-content>6A<\/jats:italic> and RAPGEF<\/jats:styled-content>2<\/jats:italic> are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE<\/jats:styled-content>).<\/jats:p><\/jats:sec>Methods<\/jats:title>Five families diagnosed with FCMTE<\/jats:styled-content> were included in the current genetic analysis. Whole\u2010exome sequencing was performed in selected patients of each family. TTTTA<\/jats:styled-content> and TTTCA<\/jats:styled-content> expansions were examined by repeat\u2010primed polymerase\u00a0chain reaction. The clinical features of FCMTE<\/jats:styled-content> were elicited as defined by the common genetic mechanism of 14 patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Abnormal TTTCA<\/jats:styled-content> expansion was identified and co\u2010segregated in all five FCMTE<\/jats:styled-content> families, four inserted in SAMD<\/jats:styled-content>12<\/jats:italic> and one in RAPGEF<\/jats:styled-content>2<\/jats:italic>. The insertion of expanded TTTCA<\/jats:styled-content> was not found in 116 control alleles. TTTTA<\/jats:styled-content> expansion in SAMD<\/jats:styled-content>12<\/jats:italic> was detected in 90.9% (10\/11) of patients or mutation carriers; TTTTA<\/jats:styled-content> expansion in RAPGEF<\/jats:styled-content>2<\/jats:italic> was not found. The onset age of myoclonic tremor was 27.4\u00a0\u00b1\u00a05.9 (19\u201337) and epilepsy usually presented around age 34. Focal and generalized seizures were witnessed with various origins recorded by electroencephalogram. Cognitive deficits were not common within the first 3 years after epilepsy onset. Emotional instability was reported by most patients. No patients showed any cerebellar deficits. Valproate added with clonazepam is effective in controlling seizures but cannot guarantee a complete remission of tremor. Repeat length showed intergenerational instability and was inversely correlated with age at onset of myoclonic tremor and epilepsy.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>TTTCA<\/jats:styled-content> expansion insertion is associated with FCMTE<\/jats:styled-content> in Chinese families. The homogenous genetic mechanism allowed for a higher precision of FCMTE<\/jats:styled-content> description.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13848","type":"journal-article","created":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T18:00:09Z","timestamp":1540317609000},"page":"513-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["TTTCA<\/scp> repeat expansion causes familial cortical myoclonic tremor with epilepsy"],"prefix":"10.1111","volume":"26","author":[{"given":"X. 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