TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree
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 investigate whether these abnormal expansions are involved...
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-02-01
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Series: | Frontiers in Neurology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full |
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