Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic intervention

Loss of function gene mutations in SCN2A - Prof Steven Petrou

There are promising treatment methods for patients with SCN2A gene mutations, but how would they work in practice?
In this final presentation for the SCN2A Virtual Conference, respected Director of the Florey, Professor Steven Petrou, explains how the SCN2A gene works, how mutations can lead to loss of function, and how treatment methods could increase that function.

Professor Steven Petrou is Director of the Florey Institute for Neuroscience and Mental Health and Head of the Florey’s Division of Epilepsy. He heads the Laboratory of Ion Channels and Human Disease, a multidisciplinary team of researchers with a focus on revealing fundamental mechanisms of disease genesis in the central nervous system. Current major areas of investigation centre on the development and characterisation of genetically engineered mice models for the study of human familial epilepsy. He works closely with industry and has several patents for his discoveries. In addition to his many roles within the Florey Institutes and the University of Melbourne, he serves on the editorial board of the Journal Neurobiology of Disease and the Investigators Workshop Committee for the American Epilepsy Society.