Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

Abstract Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for over 20 years. Methods Patients were subjected to c...

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Bibliographic Details
Main Authors: Yongxing Zhou, Raman Sood, Qun Wang, Blake Carrington, Morgan Park, Alice C. Young, Daniel Birnbaum, Zhao Liu, Tetsuo Ashizawa, James C. Mullikin, Mohamad Z. Koubeissi, Paul Liu
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Epilepsia Open
Subjects:
epilepsy
FCMTE
myoclonus
SAMD12
Online Access:https://doi.org/10.1002/epi4.12450

Internet

https://doi.org/10.1002/epi4.12450

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