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

Blyth, Moira; Raponi, Michela; Treacy, Rebecca; Raymond, F. Lucy; Yates, John R. W.; Baralle, Diana
March 2010
Journal of Neurology, Neurosurgery & Psychiatry;Mar2010, Vol. 81 Issue 3, p350
Academic Journal
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.


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