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PubMed · 14586486

Epilepsy genetics.

Dimitri M Kullmann
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Abstract

Genetics have for a long time been suspected of playing an important role in idiopathic generalized epilepsy. The last decade has seen the discovery of several genes underlying epilepsy transmitted in a Mendelian fashion. Among these are genes causing recessive neurodevelopmental disorders complicated by seizures. In addition, several genes, mainly coding for ion channels, have been identified in rare families exhibiting a wide variety of idiopathic epilepsy phenotypes. The next decade will likely reveal whether these or related genes also act as susceptibility factors for sporadic epilepsy.

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BibTeXRIS

Dimitri M Kullmann. 2003. Epilepsy genetics.. https://doi.org/10.1358/dot.2003.39.9.799479

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Long-term seizure outcomes and factors associated with response to adjunctive everolimus in TSC-associated epilepsy.

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.

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