Article
[Analysis of genotypes, EEG and phenotypes of tuberous sclerosis complex patients].
Zhonghua yi xue za zhi - 14 Jan 2020
He J, Zhou W J, Shi J, Lin J L, Zhang B Q, Sun Z H
Abstract excerpt
Objective: Tuberous sclerosis complex (TSC) is a multi-system disease with TSC1 and TSC2 genes as the pathogenic genes. The purpose of our study was to analyze the gene mutation in patients with TSC with epilepsy as the main clinical manifestation. The relationship between genotype and phenotype, scalp EEG in patients was analyzed. Methods: The peripheral blood was extracted from 43 patients and their families....
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