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Article

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

American journal of medical genetics. Part A - 1 Jun 2024

Richard Melissa A, Lupo Philip J, Ehli Erik A, Sahin Mustafa, Krueger Darcy A, Wu Joyce Y, Bebin Elizabeth M, Au Kit Sing, Northrup Hope, Farach Laura S

Abstract excerpt

Common genetic variants identified in the general population have been found to increase phenotypic risks among individuals with certain genetic conditions. Up to 90% of individuals with tuberous sclerosis complex (TSC) are affected by some type of epilepsy, yet the common variants contributing to epilepsy risk in the general population have not been evaluated in the context of TSC-associated epilepsy. Such...

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Identifiers

PMID: 38366765
DOI: 10.1002/ajmg.a.63569
PMCID: PMC11060940

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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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