Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Benign adult familial myoclonic epilepsy"'
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28674- (2024)
Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequenci
Externí odkaz:
https://doaj.org/article/be5a4e563feb4238a07d320d2d063574
Autor:
Afsana Bhuiyan, Shuichi Asakawa
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 11 (2023)
Non-coding repeat expansion causes several neurodegenerative diseases, such as fragile X syndrome, amyotrophic lateral sclerosis/frontotemporal dementia, and spinocerebellar ataxia (SCA31). Such repetitive sequences must be investigated to understand
Externí odkaz:
https://doaj.org/article/5564c233eab04c1b8715024be7b2f076
Akademický článek
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Autor:
Chaorong Liu, Yanmin Song, Ying Yuan, Ying Peng, Nan Pang, Ranhui Duan, Wen Huang, Xuehui Qin, Wenbiao Xiao, Hongyu Long, Sha Huang, Pinting Zhou, Lili Long, Bo Xiao
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investiga
Externí odkaz:
https://doaj.org/article/da6731e9eab64472abc8d72dc030c21b
Akademický článek
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Autor:
Shoji Tsuji, Hiroyuki Ishiura
Publikováno v:
Current Opinion in Genetics & Development. 65:176-185
Recently repeat expansions have been found in more than 10 diseases in the past two years. Because the same repeat motifs are found in similar disease (as exemplified by benign adult familial myoclonic epilepsy) or in diseases with overlapping phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7737bde8765d00460133209533ea6440
https://doi.org/10.1016/j.gde.2020.05.029
https://doi.org/10.1016/j.gde.2020.05.029
Autor:
Patra Yeetong, Nath Pasutharnchat, Vorasuk Shotelersuk, Monnat Pongpanich, Melanie Bahlo, Chaipat Chunharas, Kanya Suphapeetiporn, Chalurmpon Srichomthong, Mark F. Bennett
Publikováno v:
Eur J Hum Genet
Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe94c632fc31e62fa847ecd0b2c657b
https://doi.org/10.1038/s41431-020-00729-1
https://doi.org/10.1038/s41431-020-00729-1
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Xue-Hui Qin, Ying Peng, Ying Yuan, Chaorong Liu, Wen Huang, Sha Huang, Yanmin Song, Bo Xiao, Hongyu Long, Wenbiao Xiao, Nan Pang, Ranhui Duan, Pinting Zhou, Lili Long
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology
Frontiers in Neurology
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6130c33a76bd25e31e3218492536a71f
https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full
https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full
Autor:
Monnat Pongpanich, Chalurmpon Srichomthong, Nithiphut Tantirukdham, Chaipat Chunharas, Vorasuk Shotelersuk, Varote Shotelersuk, Kanya Suphapeetiporn, Adjima Assawapitaksakul, Patra Yeetong
Publikováno v:
Brain. 142:3360-3366
Epilepsy is a common neurological disorder and identification of its causes is important for a better understanding of its pathogenesis. We previously studied a Thai family with a type of epilepsy, benign adult familial myoclonic epilepsy type 4 (BAF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ac75d90691aeaf8c493b0d497694e7
https://doi.org/10.1093/brain/awz267
https://doi.org/10.1093/brain/awz267