PubMed · 13617485
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W J FRIEDLANDER. 1959. Epilepsy.. https://doi.org/10.1176/ajp.115.7.623
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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.
The basic principles of the ILAE syndrome classification can be summarised as: clear definitions; reference to the seizure classification; expert consensus based on literature research; providing a taxonomy rather than a diagnostic manual; use of the dichotomies generalised versus localisation-related and idiopathic versus symptomatic; openness for the incorporation of new findings; and promotion of nosological thought. In fact, the publication of the classification stimulated research, especially in the fields of genetics, reflex epileptic mechanisms and advanced imaging, which will probably lead to a major revision of the nosology of epilepsies. Both localisation-related and "generalised" idiopathic epilepsies are about to be understood as related variants of system disorders of the brain, with an ictogenesis making pathological use of existing functional anatomic networks.
The efforts of the International League against Epilepsy (ILAE) to devise classifications of the epilepsies has greatly improved communication among epileptologists and influenced both basic and clinical research. Several classifications have been proposed since 1970; the most recent classification of epilepsy syndromes and epilepsies was published in 1989. Since 1997, the ILAE Task Force on Classification and Terminology has been evaluating this classification and some modifications have been recommended. Although the 1989 classification can be criticized and needs to be updated, it has been widely accepted and is universally employed. Consequently, the Task Force has agreed not to propose a replacement until a clearly better classification can be created.