Epilepsy is one of the most frequent CNS manifestations of tuberous sclerosis, and for most patients, it is the major debilitating factor. In up to 70% of the cases, the epilepsy is refractory and usually associated with significant behavioral as well as developmental consequences. Therefore, controlling seizures is one of the biggest medical and surgical challenges. Understanding the cellular mechanism involved in the disease empowered targeted research aimed toward early intervention in the epileptogenicity process. In this review, we present an update on the pharmacological treatments in tuberous sclerosis-related epilepsy.
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http://dx.doi.org/10.1007/s00381-020-04772-7 | DOI Listing |
Front Neurol
February 2024
Epilepsy Center, Xiamen Humanity Hospital Fujian Medical University, Xiamen, Fujian, China.
Background: Tuberous sclerosis complex (TSC) is one of the most common genetic causes of epilepsy. Identifying differentially expressed lipid metabolism related genes (DELMRGs) is crucial for guiding treatment decisions.
Methods: We acquired tuberous sclerosis related epilepsy (TSE) datasets, GSE16969 and GSE62019.
Klin Padiatr
March 2023
Department of Paediatric Pneumology, Allergy and Neonatology, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Germany.
Clin Kidney J
June 2022
The Medical School, University of Sheffield, Sheffield, UK.
Background: Everolimus is a potential alternative to embolization and nephrectomy for managing tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (AML). In 2016, National Health Service England approved its use through regional centres for renal AML ≥30 mm showing interval growth. Evidence of lesion stabilization or reduction after 6 months is mandated for continuation of long-term treatment.
View Article and Find Full Text PDFCase Rep Neurol
September 2021
Klinik und Hochschulambulanz für Neurologie, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Anti-NMDA receptor (NMDAR) encephalitis (NMDARE) is an important treatable cause of autoimmune psychosis in all age-groups, which is sometimes associated with tumors, especially ovarian teratomas. Tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disease predisposing for development of benign tumors. We present a case of a 35-year-old woman with recurrent episodes of schizophrenia-like symptoms.
View Article and Find Full Text PDFChilds Nerv Syst
October 2020
Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv, Israel.
Epilepsy is one of the most frequent CNS manifestations of tuberous sclerosis, and for most patients, it is the major debilitating factor. In up to 70% of the cases, the epilepsy is refractory and usually associated with significant behavioral as well as developmental consequences. Therefore, controlling seizures is one of the biggest medical and surgical challenges.
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