TITLE

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

AUTHOR(S)
Blyth, Moira; Raponi, Michela; Treacy, Rebecca; Raymond, F. Lucy; Yates, John R. W.; Baralle, Diana
PUB. DATE
March 2010
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Mar2010, Vol. 81 Issue 3, p350
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article focuses on the tuberous sclerosis phenotype expansion, an autosomal dominant disorder that causes mental retardation and epilepsy. It references the case of a family with an unusually mild phenotype due to TSC1 splice site (SS) mutation wherein the proband had generalised tonic-clonic seizures when he was 11, his brother had nocturnal seizues, and his father has mild facial erythema with no definite angiofibromas. It adds the classification of the proband and father as possible TS.
ACCESSION #
48406959

 

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