What is it about?
This paper presented a Chinese FCMTE locolized on FCMTE1 locus and its result of whole-exome sequencing.
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Why is it important?
This is the first time an FCMTE1 pedigree from China reported. Whole-exome sequencing was performed in FCMTE1 pedigree.
Perspectives
This paper is important for researchers on FCMTE, a rare epilepsy syndrome, whose causative genes are still unknown. Whole-exome sequencing was performed in FCMTE1 pedigree for the first time. Although the result of WES was negative, it's also useful for further studies of FCMTE. On the other hand, we corrected the causative gene region of FCMTE1 by combining previous reports.
Dr Zhiding Cen
Second Affiliated Hospital, School of Medicine, Zhejiang University
Read the Original
This page is a summary of: Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family, American Journal of Medical Genetics Part B Neuropsychiatric Genetics, June 2015, Wiley,
DOI: 10.1002/ajmg.b.32337.
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