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Article

Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026

Farach Laura S, Leu Costin, Lal Dennis, Smith Althea R, Montanucci Ludovica, Richard Melissa A, Au Kit Sing, Northrup Hope

Abstract excerpt

PURPOSE: To determine the frequency of pathogenic gene or copy-number variants associated with epilepsy or neurodevelopmental disorders in individuals with tuberous sclerosis complex (TSC). METHODS: Exome sequencing and single-nucleotide polymorphism array analysis were performed on 224 individuals with TSC. Variant interpretation followed American College of Medical Genetics guidelines and variants were...

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Identifiers

PMID: 41988793
DOI: 10.1016/j.gim.2026.102582

Genes

TSC1
TSC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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