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Article

Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

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

Zhou Yuanfeng, Wang Xinhua, Wang Ji, Ding Yifeng, Wang Yi, Li Hao, Zhao Rui, Wu Bingbing

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients. METHODS: We analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient with refractory epilepsy. RESULTS: We found no...

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PMID: 33517515
DOI: 10.1007/s00381-021-05059-1

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