Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.
Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders
CBD bears investigation in epilepsy and other neuropsychiatric disorders, including anxiety, schizophrenia, addiction, and neonatal hypoxic‐ischemic encephalopathy, however, data from well‐powered double‐blind randomized, controlled studies on the efficacy of pure CBD for any disorder is lacking.
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors.
- S. Rakowski, E. B. Winterkorn, E. Paul, D. Steele, E. Halpern, E. Thiele
- MedicineKidney International
- 2 November 2006
A high rate of renal involvement; a low rate of serious complications; significant associations between renal involvement, genotype, and gender; and a significant association between renal and pulmonary involvement in female patients are confirmed.
The natural history of epilepsy in tuberous sclerosis complex
- C. Chu-Shore, P. Major, S. Camposano, D. Muzykewicz, E. Thiele
- Medicine, PsychologyEpilepsia
- 22 December 2009
This study highlights the need to understand more about the natural history of epilepsy in patients with TSC before deciding whether or not to treat them with Epilepsy UK.
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
A revised version of this guideline for the management of children on Ketogenic dietary therapies is presented, in order to include recent research, especially regarding other dietary treatments, clarifying indications for use, side effects during initiation and ongoing use, value of supplements, and methods of KDT discontinuation.
Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group
This paper addresses issues such as patient selection, pre‐KD counseling and evaluation, specific dietary therapy selection, implementation, supplementation, follow‐up management, adverse event monitoring, and eventual KD discontinuation.
Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial
Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome
This study provides Class I evidence that for children with Dravet syndrome, CBD resulted in more AEs than placebo but was generally well-tolerated.