ArticleActa neurologica Scandinavica2021
Epilepsy in adult patients with tuberous sclerosis complex.
Article in Acta neurologica Scandinavica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.Orphanet journal of rare diseases · 2025Pooled it
- Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.Journal of neurology · 2026Article
- Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.European journal of human genetics : EJHG · 2026Article
- Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.Epilepsy & behavior reports · 2024Article
- A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.Orphanet journal of rare diseases · 2023Observational
- Incidental finding of tuberous sclerosis complex in a woman with hematuria: A case report of renal angiomyolipoma and review of the literature.Clinical case reports · 2023Article
- Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review.Journal of clinical medicine · 2021Review
- Targeted Therapies in Rare Brain Tumours.International journal of molecular sciences · 2021Review
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesLittle is known about the evolution of epilepsy in individuals with tuberous sclerosis complex (TSC) in adulthood. This study aims at describing the characteristics of epilepsy in adult TSC patients attending a single multidisciplinary clinic. MATERIALS AND
methodsWe collected data about epilepsy (age at onset, seizure types, history of infantile spasms (IS), epilepsy diagnosis and outcome), genetic and neuroradiological findings, cognitive outcome and psychiatric comorbidities.
resultsOut of 257 adults with TSC, 183 (71.2%) had epilepsy: 121 (67.2%) were drug-resistant; 59 (32.8%) seizure-free, at a median age of 18 years. 22% of the seizure-free patients (13/59) discontinued medication. Median age at seizure onset was 9 months. Seventy-six patients (41.5%) had a history of IS. TSC2 pathogenic variants (p = 0.018), cortical tubers (p < 0.001) and subependymal nodules (SENs) (p < 0.001) were more frequent in those who developed epilepsy. Cognitive functioning was lower (p < 0.001) and psychiatric disorders more frequent (p = 0.001). We did not find significant differences regarding age, gender, mutation and tubers/SENs in seizure-free vs drug-resistant individuals. Intellectual disability (p < 0.001) and psychiatric disorders (p = 0.004) were more common among drug-resistant patients.
conclusionsEpilepsy in TSC can be a lifelong disorder, but one-third of individuals reach seizure freedom by early adulthood. In the long term, age at epilepsy onset has a crucial role in drug resistance and in developing intellectual disability, both in drug-resistant and drug-sensible patients. Patients with drug-refractory seizures tend to develop psychiatric issues, which should be recognized and adequately treated.
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