Mutational analysis in acohort of 224 tuberous sclerosis patients indicates increasedseverity of TSC2,compared with TSC1,disease in multiple organs[J]. Am J Hum Genet,2001, 68( 1) : 64-80. 8Langkau N, Martin N, Brandt R, et al. TSCland TSC2 mutationsin tuberous sclerosis, the ...
Background: TSC is a genetic multi-system disorder, inherited in an autosomal dominant fashion that may appear in every age and with a great variety in severity. It is a rare disease and its incidence has recently estimated to be 1 in 6,000 live births. Aim: Primary goal of this ...
CONCLUSIONS: Based on our preliminary findings, the annual incidence rate for TSC disease is estimated at approximately 1:12,300 live births, but this is a very rough approximation. KEYWORDS: Adolescents; Children; ESPED; Epidemiology; Incidence; Tuberous sclerosis complex disease PMID: 27812765 DOI...
Background: TSC is a genetic multi-system disorder, inherited in an autosomal dominant fashion that may appear in every age and with a great variety in severity. It is a rare disease and its incidence has recently estimated to be 1 in 6,000 live births. Aim: Primary goal of this descrip...
(<3.5-4.0 cm in diameter) , otherwise renal ultrasonography every one to three years; renal CT/MRI if are large or numerous; neurodevelopmental and behavioral evaluations at select times in childhood and early adulthood and in response to educational or behavioral concerns in children; ...
- 《Journal of Heart Valve Disease》 被引量: 6发表: 2012年 Everolimus treatment of a fetal intracardiac rhabdomyoma not associated with the tuberous sclerosis complex: a case report. Introduction: Benign cardiac rhabdomyomas are the most common cardiac tumors in fetuses and children. They are ...
Epilepsy occurs in up to 90% of all individuals with tuberous sclerosis complex (TSC). In 67% disease onset is during childhood. In ≥ 50% seizures are refractory to currently available treatment options. The mTOR-Inhibitor Everolimus (Votubia) was approved for the treatment of subependymal gi...
One patient with metastatic chordoma idence data in the general US population2 18 suggest that treated with chemotherapy was reported to be alive without chordoma may be diagnosed annually in fewer than 1 in evidence of disease at 5 years after diagnosis; no e 10000 000 children under age 10 ...
Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with
We hope that from the information collected, researchers can gain a better understanding of the development of the disease, improve the clinical care of individuals with TSC by finding better ways to treat the different symptoms that affect both children and adults, and ultimately discover a cure....