TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Neurology
Subjects:
benign adult familial myoclonic epilepsy
SAMD12
pentanucleotide
cognitive impairment
TTTCA expansion
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full

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