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Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort.

Seizure - 1 Oct 2021

Ding Yifeng, Zhou Yuanfeng, Yu Lifei, Zhang Linmei, Zhou Shuizhen, Wang Yi, Wang Ji

Abstract excerpt

OBJECTIVE: To describe the first large population (n = 297) with tuberous sclerosis complex (TSC) in China and to examine the relationship between variants (type and location) and epilepsy. METHODS: All exons and intron-exon boundaries of TSC1/TSC2 were sequenced with next-generation sequencing, and the distribution of several variants and associations between variant types and epilepsy were investigated....

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PMID: 34252879
DOI: 10.1016/j.seizure.2021.06.036

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