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Article

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jan 2021

Yang Mei-Hua, Wang Zhong-Ke, Huang Yi, Lv Sheng-Qing, Zhang Chun-Qing, Zhu Yuan-Yuan, Yang Qing-Wu, Liu Shi-Yong

Abstract excerpt

PURPOSE: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems. The TSC1 and TSC2 genes have been identified as the genetic basis of TSC. Two gene tests were used for definitive genetic diagnosis. METHODS: In our study, the case of a Chinese pediatric patient with seizures, hypomelanotic macules, hyperpigmented patches, multiple...

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PMID: 32533299
DOI: 10.1007/s00381-020-04702-7

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