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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Vydáno v:Front Neurol
Hlavní autoři: Liu, Chaorong, Song, Yanmin, Yuan, Ying, Peng, Ying, Pang, Nan, Duan, Ranhui, Huang, Wen, Qin, Xuehui, Xiao, Wenbiao, Long, Hongyu, Huang, Sha, Zhou, Pinting, Long, Lili, Xiao, Bo
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Neurology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7055650/
https://ncbi.nlm.nih.gov/pubmed/32174879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00068
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