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Article

Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families.

Brain research - 15 Jun 2020

Zhang Yingying, Xiong Weixi, Lu Lu, Zhou Dong

Abstract excerpt

Recently, expanded intronic TTTCA and TTTTA repeat in SAMD12 were identified in families with familial cortical myoclonic tremor with epilepsy (FCMTE). We conducted to this study to clarify the genetic etiology and to describe the clinical, neurophysiologic, and imaging features in two unrelated Chinese families with FCMTE. In this study, we performed the RP-PCR and long-range PCR analysis to examine and...

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Identifiers

PMID: 32194077
DOI: 10.1016/j.brainres.2020.146796

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