2 results match your criteria: "United Kingdom and Chalfont Centre for Epilepsy[Affiliation]"
Tolerability of tariquidar - A third generation P-gp inhibitor as add-on medication to antiseizure medications in drug-resistant epilepsy.
Seizure
July 2024
Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks SL9 0RJ, United Kingdom.
Purpose: P-glycoprotein (P-gp) has been hypothesized to be involved in drug-resistance of epilepsy by actively extruding antiseizure medications (ASMs) from the brain. The P-gp inhibitor tariquidar (TQD) has been shown to effectively inhibit P-gp at the human blood-brain barrier, improving brain entry of several ASMs. A potential strategy to overcome drug-resistance is the co-administration of P-gp inhibitors such as TQD to ASMs.
View Article and Find Full Text PDFNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
February 2021
Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Article Synopsis
- NEXMIF encephalopathy is linked to intellectual disability, autism, and epilepsy, primarily caused by pathogenic variants in the NEXMIF gene.
- The study involved 87 patients (63 females and 24 males) and identified a high prevalence of developmental delays and seizures, particularly in males, who exhibited more severe impairments.
- Key findings show that all identified NEXMIF variants lead to premature stop codons or damaging changes, predominantly occurring de novo, with some cases of somatic mosaicism in affected families.