Webinar 2: Clinical features of SCN2A-Related Disorders
Mutations of the SCN2A gene can result in a range of different clinical syndromes. Whilst most presentations have epilepsy, autism and a degree of developmental impairment there is a lot of variation, and these variations reflect different expressions of gene function.
Understanding these different clinical presentations can help to guide treatment, and will be critical as SCN2A treatment moves towards disease modifying treatments. It can also give insights in to prognosis and help families better understand what the future holds.
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.