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Article

Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.

Journal of child neurology - 1 Jun 2018

Gilboa Tal, Segel Reeval, Zeligson Sharon, Alterescu Gheona, Ben-Pazi Hilla

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder diagnosed by clinical criteria and/or genetic testing. Genetic testing reveals atypical phenotypes that have not met clinical criteria, with practical implications. METHODS: We describe 4 family members with pathogenic partial deletion in TSC1 who individually did not meet tuberous sclerosis complex clinical criteria. RESULTS: Family members...

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Source

Identifiers

PMID: 29687738
DOI: 10.1177/0883073818767036

Genes

TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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