Our primary research interest centers around the genetic causes of human diseases, with a specific emphasis on neurodevelopmental disorders (NDD) and epilepsy. Central to our work are the invaluable patient collections we have established, as well as our pivotal role in a national network dedicated to collecting samples from individuals with epilepsy for genetic research. Moreover, our close association with the genetic diagnostic and clinical genetics department provides critical support to over 600 individuals dealing with NDD and epilepsy.

In recent years, our investigations have focused on the identification of biomarkers and clinical factors that influence the clinical outcomes in Dravet syndrome. We have meticulously characterized mutations in epilepsy-related genes, conducted genetic association studies on common forms of epilepsy, leading to the pioneering large-scale GWAS on epilepsy. Our research has also explored the intricate connections between epilepsy and other brain-related disorders. Additionally, we have dedicated efforts to exploring monogenic causes of epilepsy and chromosomal abnormalities.

Our recent focus has shifted towards translating our genetic findings into clinical applications. We are actively researching the impact of genetics on epilepsy surgery and treatment outcomes, while also exploring the therapeutic implications of having an epilepsy-related genetic mutation. In addition, we are at the forefront of developing innovative gene therapies for NDD, encompassing gene modulation and editing techniques, and RNA therapy.