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PubMed (OMIM) for id: 401474

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Page 1
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. J Hum Genet. 2021 Apr;66(4):419-429. doi: 10.1038/s10038-020-00855-0. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040085
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M. Bennett MF, et al. Eur J Hum Genet. 2020 Jul;28(7):973-978. doi: 10.1038/s41431-020-0606-z. Epub 2020 Mar 16. Eur J Hum Genet. 2020. PMID: 32203200 Free PMC article.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
FAME 3: a novel form of progressive myoclonus and epilepsy.
Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. Carr JA, et al. Neurology. 2007 Apr 24;68(17):1382-9. doi: 10.1212/01.wnl.0000260063.46425.7e. Neurology. 2007. PMID: 17452583
17 results