{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T07:08:58Z","timestamp":1778828938342,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T00:00:00Z","timestamp":1435622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81371266"],"award-info":[{"award-number":["81371266"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Zhejiang Leading Team of Science and Technology Innovation","award":["2010R50049-04"],"award-info":[{"award-number":["2010R50049-04"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1\u2010q12.2 (FCMTE2), 5p15.31\u2010p15.1 (FCMTE3), and 3q26.32\u20103q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole\u2010exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree. Nine affected members had both cortical myoclonic tremor and epilepsy, while three affected members had only cortical myoclonic tremor. Electrophysiologic examinations manifested giant somatosensory evoked potentials and long\u2010latency cortical reflex in some affected members. Whole genome scan identified a 20.4\u2009Mb causative gene region at 8q22.3\u2010q24.13. No copy number variants were identified as the causative mutation. Whole\u2010exome sequencing identified a co\u2010segregated mutation (c.206A&gt;T; p.Y69F) in the <jats:italic>SLC30A8<\/jats:italic> gene. However, the evidence supporting this gene as the causative gene of FCMTE1 is not enough. We report the first Chinese FCMTE1 pedigree. No copy number variants, point mutation or small insertion\/deletion were detected in the identified region that showed an association with FCMTE1. Further studies could focus on other possible genetic mechanisms while the association between the <jats:italic>SLC30A8<\/jats:italic> and FCMTE1 needs further evidence. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32337","type":"journal-article","created":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T12:15:18Z","timestamp":1435666518000},"page":"595-599","source":"Crossref","is-referenced-by-count":21,"title":["Fine mapping and whole\u2010exome sequencing of a familial cortical myoclonic tremor with epilepsy family"],"prefix":"10.1002","volume":"168","author":[{"given":"Zhi\u2010dong","family":"Cen","sequence":"first","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"},{"name":"Department of Pediatrics, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan\u2010ning","family":"Lou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing\u2010jiao","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010yuan","family":"Ouyang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital Sichuan University Cheng du Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hou\u2010min","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong\u2010jin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian\u2010feng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Tennessee Health Science Center Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital, School of Medicine Zhejiang University Hangzhou Zhejiang 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