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Trial Lecture – time and place
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Adjudication committee
- First opponent: Professor Elena Gardella, University of Southern Denmark
- Second opponent: Professor Emeritus Nils Erik Gilhus, Universitetet i Bergen, Norway
- Third member and chair of the evaluation committee: Professor Benedicte A. Lie, University of Oslo
Chair of the Defence
Professor Emeritus Borghild Barth-Heyerdahl Roald, University of Oslo
Principal Supervisor
Researcher Olav Bjerkehagen Smeland, University of Oslo
Summary
Epilepsy is a complex brain disorder characterized by recurrent seizures and often linked to psychiatric disorders, cortical malformations, and cognitive impairments. While genetics is known to play a role in epilepsy and these traits, the extent of their shared genetic basis remains unclear. This thesis investigated the genetic architecture of epilepsy and its shared genetic relationships with related brain traits to enhance the understanding of epilepsy genetics.
Advanced statistical methods were applied to genome-wide association studies of epilepsy, including its subtypes, as well as psychiatric disorders (schizophrenia, bipolar disorder, ADHD, depression, and autism spectrum disorder), cortical morphology traits (cortical thickness and surface area), and general cognitive ability. Data were derived from international consortia and large population-based samples.
The findings shed light on epilepsy genetics and the differences in genetic complexity across the studied traits. Epilepsy risk is found to be influenced by several thousand genetic variants —more than those underlying cortical morphology but fewer than those for psychiatric disorders and general cognitive ability. Extensive genetic overlap was identified between epilepsy and the traits studied, despite no significant genetic correlations between epilepsy and psychiatric disorders or cortical morphology, showing that genetic overlap can exist regardless of genetic correlations. Novel overlapping genetic variants were identified, implicating biological processes such as transcription regulation, serine/threonine phosphorylation, the mTOR signaling pathway, and signal transduction.
These findings suggest that shared genetic influences may contribute to the co-occurrence of epilepsy with psychiatric disorders, cortical alterations, and cognitive impairments. A deeper understanding of epilepsy genetics is needed to develop novel treatment approaches, including personalized and comorbidity-focused treatments.
Additional information
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