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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918340/
https://www.ncbi.nlm.nih.gov/pubmed/33681653
http://dx.doi.org/10.1002/epi4.12450

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