scholarly journals 840 Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the literature

2018 ◽  
Vol 138 (5) ◽  
pp. S142
Author(s):  
L. Zheng ◽  
M. Gao
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Case Series ◽  
Complex Case ◽  
Review Of The Literature ◽  
Novel Mutations ◽  
Chinese Han

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work

2018 ◽  
Vol 45 (7) ◽  
pp. 867-870 ◽  
Author(s):  
Li-Yun Zheng ◽  
Yu-Wei LEE ◽  
Yang Han ◽  
Li-Li Tang ◽  
Yu-Yan Cheng ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Case Series ◽  
Complex Case ◽  
Novel Mutations ◽  
Chinese Han

scholarly journals Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

2019 ◽  
Vol 9 (4) ◽  
Author(s):  
Paula Frudit ◽  
Bruno Kusznir Vitturi ◽  
Flavia Cristina Navarro ◽  
Ivan Rondelli ◽  
Geanete Pozzan
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Complex Case ◽  
Review Of The Literature

Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature

2015 ◽  
Vol 211 (12) ◽  
pp. 1025-1029 ◽  
Author(s):  
Liliana Santos ◽  
Iva Brcic ◽  
Georg Unterweger ◽  
Robert Riddell ◽  
Cord Langner
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Complex Case ◽  
Review Of The Literature ◽  
Hamartomatous Polyposis

scholarly journals Brain‐Responsive Neurostimulation for the treatment of adults with epilepsy in tuberous sclerosis complex: A case series

2021 ◽  
Author(s):  
Danielle S. McDermott ◽  
Emily A. Mirro ◽  
Kirsten Fetrow ◽  
David E. Burdette ◽  
Stephanie Chen ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Case Series

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

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