Royal Children's Hospital, Melbourne, Australia
Katherine Howell is a paediatric neurologist and epileptologist at The Royal Children's Hospital, Melbourne, and a Clinician-Scientist Fellow at the Murdoch Children's Research Institute. Her clinical and research work focuses on severe, early-life epilepsies. Katherine's work on SCN2A-related disorders has been important in describing their clinical features, determining a number of different phenotypes of SCN2A-associated epilepsies, and understanding the relationship between the SCN2A phenotype and the impact of the mutation on brain cell function. In 2019, she was the lead investigator on the International Natural History Study of SCN2A related disorders. This study will provide critical information for future treatment trials.
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