The SSMF (Svenska sällskapet för medicinsk forskning) has awarded a postdoctoral grant of SEK 2.1 million to the project "Quantitative EEG as a biomarker of disease severity, disease progression and treatment response in monogenic epilepsies", lead by KI-researcher Una Smailovic.
The project will investigate whether comprehensive analysis of electroencephalography (EEG) can help define different phenotypes, reflect symptoms and severity, predict disease progression and treatment response in monogenic epilepsies.
"Even among patients who carry the same disease-causing genetic variant, epilepsy can vary remarkably in severity, seizure frequency and neurodevelopmental outcomes," says Una Smailovic , postdoc researcher at the Department of Clinical Neuroscience , the Division of Neuro , and ST-läkare in Clinical Neurophysiology, Karolinska University Hospital.
"I hope this project will show whether quantitative EEG can help distinguish these diverse clinical phenotypes, predict disease course and ultimately support more personalized care."
Understanding differences in genetic epilepsy
Epilepsy is a common neurological disorder, particularly prevalent in children, where it is associated with neurodevelopmental and behavioral comorbidities. A genetic cause can now be identified in up to 40 per cent of people with severe epilepsy and is a predominant cause of epilepsy in early childhood. Yet even within the same family, individuals carrying the same disease-causing genetic variant can experience remarkably different forms of disease.
Some individuals experience only mild, infrequent seizures, while others develop severe, lifelong conditions with frequent seizures and difficulties in learning, movement, speech and behavior. Understanding these differences is essential for improving prognosis and developing targeted treatments.
How brain activity can reveal disease patterns
The project will investigate whether electroencephalography (EEG), a non-invasive method that records the brain's electrical activity, can help identify different clinical forms of genetic epilepsy. While EEG is routinely interpreted by visual analysis, the researchers will apply advanced computer-based techniques called quantitative EEG (qEEG) to analyze different aspects of brain activity, including the strength and frequency of brain signals and how different brain regions communicate.
The project will focus on children and adults with epilepsy caused by variants in SCN8A, KCNT1 and STXBP1, three genes associated with a wide spectrum of clinical presentations and neurodevelopmental outcomes.
Key to precision medicine
Predicting how severe genetic epilepsy will become, and how it will develop over time, is still difficult. The researchers hope that qEEG can detect changes in brain activity at an early stage, helping doctors identify patients who may need closer monitoring or targeted treatment.
"This is becoming increasingly important as precision medicine advances. qEEG is based on EEG, which is widely available, non-invasive, and relatively inexpensive, method. If validated, qEEG markers could complement current clinical assessment and provide additional information to help guide clinical decisions, including in areas where access to genetic testing is limited," says Una Smailovic.
The project, including data collection and analysis, will be carried out in collaboration with Professor Elena Gardella and Professor Guido Rubboli at the Danish Epilepsy Centre in Dianalund, Denmark, an internationally recognized center for the electroclinical characterisation of patients with genetic epilepsies.
