Tuberous sclerosis complex: everything old is new again-Reference-Cited by-同舟云学术

Tuberous sclerosis complex: everything old is new again

Published:2009-05-06 Issue:2 Volume:1 Page:141-149
ISSN:1866-1947
Container-title:Journal of Neurodevelopmental Disorders
language:en
Short-container-title:J Neurodevelop Disord

Author:

Ess Kevin C.

Abstract

Abstract Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease caused by loss of function of either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. Patients with TSC have benign tumors (hamartomas) in multiple organs though brain involvement is typically the most disabling aspect of the disease as very high rates of neurodevelopmental disorders are seen. While first described well over 120 years ago, recent advances have transformed TSC into a prototypical disorder that exemplifies the methods and potential of molecular medicine. This review will detail historical aspects of TSC and its strong associations with neurodevelopmental disorders focusing on epilepsy and autism. Finally, promising new approaches for the treatment of epilepsy and autism in patients with TSC as well as those in the general population will be discussed.

Publisher

Springer Science and Business Media LLC

Subject

Cognitive Neuroscience,Clinical Neurology,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s11689-009-9014-y.pdf

Reference72 articles.

1. O'Callaghan FJ. Tuberous sclerosis. BMJ. 1999;318(7190):1019–20.

2. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345–56.

3. McClintock WM. Neurologic manifestations of tuberous sclerosis complex. Curr Neurol Neurosci Rep. 2002;2(2):158–63.

4. Pampiglione G, Pugh E. Letter: infantile spasms and subsequent appearance of tuberous sclerosis syndrome. Lancet. 1975;2(7943):1046.

5. Pampiglione G, Moynahan EJ. The tuberous sclerosis syndrome: clinical and EEG studies in 100 children. J Neurol Neurosurg Psychiatry. 1976;39(7):666–73.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Kidney cystosis — hereditary, congenital and acquired;Urology reports (St. - Petersburg);2023-05-11

2. An Efficient Classification of Tuberous Sclerosis Disease Using Nature Inspired PSO and ACO Based Optimized Neural Network;Nature Inspired Computing for Data Science;2019-11-27

3. Tuberous Sclerosis Complex (TSC) Disease Prediction Using Optimized Convolutional Neural Network;Proceedings of the 2019 7th International Conference on Computer and Communications Management;2019-07-27

4. Uncoupling of ER/Mitochondrial Oxidative Stress in mTORC1 Hyperactivation-Associated Skin Hypopigmentation;Journal of Investigative Dermatology;2018-03

5. Insights into molecular therapy of glioma: current challenges and next generation blueprint;Acta Pharmacologica Sinica;2017-03-20