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Article

Severity of manifestations in tuberous sclerosis complex in relation to genotype.

Epilepsia - 1 Jul 2014

Kothare Sanjeev V, Singh Kanwaljit, Chalifoux Jason R, Staley Brigid A, Weiner Howard L, Menzer Kimberly, Devinsky Orrin

Abstract excerpt

OBJECTIVE: Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study e...

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Source

Identifiers

PMID: 24917535
DOI: 10.1111/epi.12680

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24917535-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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