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Article

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

Epilepsia open - 1 Mar 2021

Zhou Yongxing, Sood Raman, Wang Qun, Carrington Blake, Park Morgan, Young Alice C, Birnbaum Daniel, Liu Zhao, Ashizawa Tetsuo, Mullikin James C, Koubeissi Mohamad Z, Liu Paul

Abstract excerpt

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 clinical evaluation, routine EEG, and structural magnetic resonance imaging. Whole exome sequencing, repeat-primed PCR,...

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Identifiers

PMID: 33681653
DOI: 10.1002/epi4.12450
PMCID: PMC7918340

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