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Trial lecture - time and place
23.05.2025, 10.15, Helga Engs hus: Auditorium 3
Neuroinflammation and it´s role in epilepsy
Conferral summary
Resultatene av denne oppgaven demonstrerer bruken av epilepsimodeller for sebrafisk som kraftige verktøy for sykdomsmodellering og identifisering av effektive medikamenter. Denne forskningen hadde som mål å fremme medikamentkandidater og ikke-medikamentelle behandlinger, slik som mRNA-overuttrykk, mot fremtidige terapeutiske anvendelser for pediatriske pasienter med epileptiske syndromer.
Main research findings
Epilepsy is a common disease, affecting 1% of the population, and is caused by both genetic and non-genetic factors. Many patients with childhood epilepsy syndromes, including those caused by mutations in genes like DHPS, CHD2, STXBP1, and SCN1A, experience drug-resistant epileptic seizures, in addition to cognitive impairment and locomotor problems.
This thesis focused on using zebrafish models to study the role of these genes in brain development and their contribution to epilepsy, with the goal of exploring potential new drug treatments for drug-resistant seizures.
In our study, we generated zebrafish models for DHPS deficiency syndrome and CHD2-related epilepsy. The dhps zebrafish model had features similar to DHPS patients, including epileptic seizures that could be treated with the recently approved drug fenfluramine. Using the chd2 zebrafish model, we found that acetazolamide, an older epilepsy drug, lowered seizure frequency, confirming our collaborators' clinical findings with this drug in CHD2 patients. Zebrafish models with mutations in STXBP1 and SCN1A were used to discover novel drug candidates with therapeutic potential for patients with these epilepsy syndromes.
Overall, using zebrafish models of childhood epilepsy syndromes, we could study the role of specific genes in early brain development and explore new potential treatments for drug-resistant epilepsies.