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Article

Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.

Neuroscience letters - 25 Sept 2018

Lin Hua, Hu Ningning, Zhang Yanfeng, Wang Yuping, Macdonald Robert L

Abstract excerpt

OBJECTIVE: We report a large new family of familial cortical myoclonic tremor with epilepsy(FCMTE) from China and identify the possible causative gene(s) for the family. METHOD: Whole exome sequencing of blood genomic DNA from 4 patients and 2 unaffected family members were performed. Detected variants and their cosegregation were confirmed by Sanger sequencing. RESULTS: We identified c.20 G > C variant in the...

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Source

Identifiers

PMID: 30003937
DOI: 10.1016/j.neulet.2018.07.014

Genes

DCAF13

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