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Article

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

Neurology - 18 Mar 2008

Jansen F E, Braams O, Vincken K L, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg B A, van den Ouweland A, van Huffelen A C, van Nieuwenhuizen O, Nellist M

Abstract excerpt

OBJECTIVE: The purpose of this study was to systematically analyze the associations between different TSC1 and TSC2 mutations and the neurologic and cognitive phenotype in patients with tuberous sclerosis complex (TSC). METHODS: Mutation analysis was performed in 58 patients with TSC. Epilepsy variables, including EEG, were classified. A cognition index was determined based on a comprehensive neuropsychological...

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Source

Identifiers

PMID: 18032745
DOI: 10.1212/01.wnl.0000280578.99900.96

Genes

TSC1
TSC2
TBP

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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