Everolimus in adult tuberous sclerosis complex patients with epilepsy: Too late for success? A retrospective study

Epilepsia ◽  
2021 ◽  
Vol 62 (3) ◽  
pp. 785-794
Author(s):  
Jakob Stockinger ◽  
Adam Strzelczyk ◽  
Andrea Nemecek ◽  
Michal Cicanic ◽  
Frank Bösebeck ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Complex Patients ◽  
Patients With Epilepsy

scholarly journals Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Socratis Avgeris ◽  
Florentia Fostira ◽  
Andromachi Vagena ◽  
Yiannis Ninios ◽  
Angeliki Delimitsou ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mutational Analysis ◽  
Complex Patients

Vagal nerve stimulation in tuberous sclerosis complex patients

2001 ◽  
Vol 25 (3) ◽  
pp. 213-216 ◽  
Author(s):  
Dominique Parain ◽  
Marie J Penniello ◽  
Patrick Berquen ◽  
Thierry Delangre ◽  
Catherine Billard ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Nerve Stimulation ◽  
Vagal Nerve ◽  
Vagal Nerve Stimulation ◽  
Complex Patients

scholarly journals Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

2020 ◽  
Author(s):  
Shruthi Sudarshan ◽  
Atin Kumar ◽  
Arun Gupta ◽  
Neetu Bhari ◽  
Gomathy Sethuraman ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Indian Population ◽  
Mutation Spectrum ◽  
Presenting Symptoms ◽  
Complex Patients ◽  
Tsc1 Gene ◽  
Detailed Assessment ◽  
Large Rearrangements ◽  
First Time

AbstractTuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

scholarly journals Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identified

2009 ◽  
Vol 73 (2) ◽  
pp. 141-146 ◽  
Author(s):  
S. E. Camposano ◽  
E. Greenberg ◽  
D. J. Kwiatkowski ◽  
E. A. Thiele
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Clinical Characteristics ◽  
Complex Patients

Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation

2012 ◽  
Vol 29 (2) ◽  
pp. 249-254 ◽  
Author(s):  
Caterina Michelozzi ◽  
Giovanni Di Leo ◽  
Federica Galli ◽  
Fabiane Silva Barbosa ◽  
Francesca Labriola ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Gene Mutation ◽  
Tuberous Sclerosis Complex ◽  
Complex Patients ◽  
Giant Cell Tumours ◽  
Subependymal Nodules
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