Genetic Epilepsy Team Australia’s 2021 Genetic Epilepsy Conference

Dr Katherine Howell is a paediatric neurologist and epileptologist at The Royal Children’s Hospital, Melbourne (https://www.facebook.com/rchmelbourne/), and a Clinician-Scientist Fellow at the Murdoch Children’s Research Institute (https://www.facebook.com/MurdochChildrensResearchInstitute/). an honorary senior fellow at the University of Melbourne and an honorary senior research fellow at the Florey Institute of Neuroscience and Mental Health (https://www.florey.edu.au/). Her clinical and research work focuses on severe, early-life epilepsies. Her research is supported by the National Health and Medical Research Council. Dr Howell’s work on SCN2A-related disorders has been important in describing their clinical features, determining a number of different subgroups (phenotypes) of SCN2A-associated epilepsies, and understanding the relationship between the SCN2A phenotype and the impact of the mutation on brain cell function.

Dr Howell is the lead investigator on the International Natural History Study of SCN2A related disorders. This study will provide critical information for future treatment trials.