Journal
JOURNAL OF CLINICAL MEDICINE
Volume 10, Issue 23, Pages -Publisher
MDPI
DOI: 10.3390/jcm10235495
Keywords
tuberous sclerosis complex; drug resistant epilepsy; refractory seizures; risk factors
Categories
Funding
- Medical Research Agency [ViRAP No 2019/ABM/01/00034/P/06]
- Polish National Center for Research and Development [STRATEGMED3/306306/4/2016]
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In order to identify patients at risk of DRE, proper MRI and EEG monitoring, genetic testing, and close observation of individuals with early onset of seizures are crucial. Risk factors such as TSC2 mutation, infantile spasms, and a high number of cortical tubers have been found to significantly increase the odds of refractory seizures in patients with TSC.
Background: Epilepsy affects 70-90% of patients with tuberous sclerosis complex (TSC). In one-third of them, the seizures become refractory to treatment. Drug-resistant epilepsy (DRE) carries a significant educational, social, cognitive, and economic burden. Therefore, determining risk factors that increase the odds of refractory seizures is needed. We reviewed current data on risk factors associated with DRE in patients with tuberous sclerosis. Methods: The review was performed according to the PRISMA guidelines. Embase, Cochrane Library, MEDLINE, and ClinicalTrial.gov databases were searched. Only full-text journal articles on patients with TSC which defined risk factors related to DRE were included. Results: Twenty articles were identified, with a cohort size between 6 and 1546. Seven studies were prospective. Three factors appear to significantly increase DRE risk: TSC2 mutation, infantile spasms, and a high number of cortical tubers. Conclusions: A proper MRI and EEG monitoring, along with genetic testing, and close observation of individuals with early onset of seizures, allow identification of the patients at risk of DRE.
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