PubMed · 13100369
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M MIVELAZ. 1953-06-01. [Lavigny].. https://pubmed.ncbi.nlm.nih.gov/13100369/
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BACKGROUND: Everolimus, a mechanistic target of rapamycin (mTOR) inhibitor, is increasingly used in tuberous sclerosis complex (TSC)-associated epilepsy; however, long-term real-world outcomes and factors associated with favorable response remain unclear. This study aimed to evaluate the long-term seizure outcomes of adjunctive everolimus and explore clinical factors associated with treatment response. METHODS: We retrospectively recruited 21 patients with active TSC-associated epilepsy receiving adjunctive everolimus and assessed seizure outcomes during follow-up. Clinical characteristics were compared between responders and non-responders at 1 year after treatment initiation. RESULTS: Over a median treatment duration of 72 months, responder rates ranged from 53.8% to 64.7%, and seizure-free rates ranged from 33.3% to 41.2%. Responders had fewer involved organ systems at baseline (median 3 vs. 4, p = 0.020) and lower anti-seizure medication burden (median 2 vs. 4, p = 0.045). Younger age at treatment initiation showed a trend toward improved response. CONCLUSION: Adjunctive everolimus was associated with sustained long-term seizure reduction in this real-world cohort. In exploratory analyses, fewer involved organ systems and fewer baseline ASMs were associated with favorable treatment response. These findings require validation in larger prospective cohorts.
Seizures induced by photic (or visual) stimuli or photosensitive seizures can be observed in generalized or focal, idiopathic, or symptomatic epilepsies, in progressive neurodegenerative disorders, and even in the context of situation-related (acute symptomatic) seizures. In addition to this "transversal" presence of the photosensitive trait across various epilepsy types and diseases, some syndromes in which all, or almost all, seizures are induced by photic stimuli seem to have sufficient specificity and may be considered as syndromes of pure reflex photosensitive epilepsy. Here we review the clinical characteristic of the different types of photic-induced seizures and the main epileptic syndromes that are characterized by visual sensitivity either as the sole manifestation or as an accessory feature.
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