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Article

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2018

Papadopoulou Anna, Dinopoulos Argyrios, Koutsodontis George, Pons Roser, Vorgia Pelagia, Koute Vasiliki, Vratimos Athanassios, Zafeiriou Dimitrios

Abstract excerpt

Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one...

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Source

Identifiers

PMID: 29500070
DOI: 10.1016/j.ejpn.2018.01.026

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.PMID 29500070Read ↗

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