scholarly journals Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis

2016 ◽  
Vol 291 (38) ◽  
pp. 20008-20020 ◽  
Author(s):  
Reinhard Zech ◽  
Stephan Kiontke ◽  
Uwe Mueller ◽  
Andrea Oeckinghaus ◽  
Daniel Kümmel
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Complex Assembly ◽  
N Terminus ◽  
Insight Into

Predictors of Efficacy in Patients with Adjunctive Everolimus Therapy for Treatment-Resistant Seizures Associated with Tuberous Sclerosis Complex

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
G. Wiegand ◽  
T. Polster ◽  
C. Hertzberg ◽  
A. Wiemer-Kruel ◽  
J. French ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Treatment Resistant

Everolimus Reduces Seizure Frequency in Tuberous Sclerosis Complex

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
T. Stapper ◽  
D. Valcheva ◽  
T. Höll ◽  
T. Rosenbaum
Keyword(s):  
Tuberous Sclerosis ◽  
Seizure Frequency ◽  
Tuberous Sclerosis Complex

Good seizure outcome after epilepsy surgery in young children with tuberous sclerosis complex

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
C Krahn-Peper ◽  
IEB Tuxhorn ◽  
K Ahlbory ◽  
F Behne ◽  
H Pannek
Keyword(s):  
Young Children ◽  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Tuberous Sclerosis Complex ◽  
Seizure Outcome

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

The lungs in tuberous sclerosis complex: a case report

2007 ◽  
Vol 56 (2) ◽  
Author(s):  
NC Iheonunekwu ◽  
TM Ibrahim ◽  
BD Crosdale ◽  
RH Gangappa
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex
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