Jolanta Kasprzyk-Obara

TL;DR: The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.

TL;DR: Cardiac rhabdomyomas are seen in the majority of young children with tuberous sclerosis complex, and are observed more often in the TSC2 group; thus, attention should be paid to potential clinical signs and monitoring by echocardiography should be performed.

TL;DR: Denaturing high pressure liquid chromatography is superior to both CSGE and SSCP for detection of DNA sequence variation in TSC2, particularly for single base substitution mutations.

TL;DR: The observations indicate that T SC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15–20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.

TL;DR: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with TSC and their cognitive outcome.