PubMed · 14851749
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C A MARTIN. 1951. [Psychic epilepsy].. https://pubmed.ncbi.nlm.nih.gov/14851749/
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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.
Several studies indicate that the lipid biological membrane contains discrete regions known as rafts or microdomains. These structures range in size from approximately 50 to 70nm to nearly a mum and play important roles in cell signaling. In the neuron, computational models suggest that transiently polarized microdomain ethenes may regulate ion-channel dynamics and control impulse propagation. Thus the microdomain is nominated as the fundamental unit of nervous system signaling. Based on this model, the article proposes a first-approximation design for a supported-membrane device which would mimic microdomain properties. The basic architecture would consist of an electrically addressable biotemplated nanowire crossing an artificial membrane corralled in a vertical carbon nanofiber barrier. Advantages and disadvantages of model components are discussed at length. It is proposed that artificial devices of this type would be medically useful in simulating membrane states correlated with neural disease. This possibility is examined with reference to the A-current potassium channel, implicated in epilepsy.
Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.