Cordelia Lindhard Smidth
Genetic Studies and Precision Medicine in the Treatment of Severe Epilepsy: Focus on the GABRB3 Variant
Epilepsy causes the brain to have a persistent disposition to seizures, known as hyperexcitability. It affects 1% of all children and is the most common neurological diagnosis in infants.
Epilepsy causes the brain to have a persistent disposition to seizures, known as hyperexcitability. It affects 1% of all children and is the most common neurological diagnosis in infants.
In the past 20 years, genetic causes have been identified in about 25% of children with severe early-onset epilepsy, allowing for better prognostication and precision medicine targeting underlying biological mechanisms.
However, two major challenges remain:
(1) Different genetic variants within a single gene can lead to different phenotypes, complicating clinical care, and
(2) despite genetic diagnosis, most epilepsy treatments remain empirical and symptomatic, as precision treatments for specific genetic changes have not yet been developed.
For the tenth consecutive year, the Lundbeck Foundation has awarded pre-graduate scholarships鈥攁lso known as DARE fellowships鈥攖o Danish...
