SCN2A Phenotypes

SCN2A Phenotypes - Dr Katherine Howell

What are the observable traits, or phenotypes, present in SCN2A-related disorders?
Dr Katherine Howell of the Murdoch Children’s Research Institute is leading an international natural history study of conditions caused by a mutation in the SCN2A gene. In this presentation, she discusses clinical symptoms associated with different SCN2A-related disorders.
Dr 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. An honorary senior fellow at the University of Melbourne and an honorary senior research fellow at the Florey Institute of Neuroscience and Mental Health. 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.