Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

doi:10.1002/ana.21037

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Article

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Annals of neurology - 1 Nov 2006

Jansen An C, Sancak Ozgur, D'Agostino Maria Daniela, Badhwar Amanpreet, Roberts Penelope, Gobbi Gabriella, Wilkinson Ralph, Melanson Denis, Tampieri Donatella, Koenekoop Robert, Gans Mark, Maat-Kievit Anneke, Goedbloed Miriam, van den Ouweland Ans M W, Nellist Mark, Pandolfo Massimo, McQueen Mary, Sims Katherine, Thiele Elisabeth A, Dubeau François, Andermann Frederick, Kwiatkowski David J, Halley Dicky J J, Andermann Eva

Abstract excerpt

OBJECTIVE: To report the clinical manifestations and functional aspects of Tuberous Sclerosis Complex (TSC), resulting from Codon 905 mutations in TSC2 gene. METHODS: We performed a detailed study of the TSC phenotype and genotype in a large French-Canadian kindred (Family A). Subsequently, clinical and molecular data on 18 additional TSC families with missense mutations at the same codon of TSC2 were collected....

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PMID: 17120248
DOI: 10.1002/ana.21037

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TSC2

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

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