Severe epilepsies of infancy (SEI) are a collection of disorders that impact babies before 18 months of age. The disorders are characterised by frequent seizures, often occurring many times a day, and are commonly resistant to treatment. SEI are typically associated with developmental impairments in babies, which are – at least in part – due to the damaging effects of seizures on the developing brain.
Dr Katherine Howell, a neurologist undertaking a PhD with Murdoch Children's and the University of Melbourne, notes that there are many features of SEI that are poorly understood. “My research aims address these gaps in our knowledge. One particular issue is that, for many children, the cause of their condition is unknown, despite extensive testing,” says Dr Howell.
Dr Howell is investigating the incidence and causes, particularly genetic causes, of SEI, with the hope of better understanding the spectrum of these conditions, providing answers to families and addressing issues of the infant’s prognosis.
Preliminary results from this study have found that around one in 2000 infants have SEI, translating to around 160 cases each year in Australia. These figures mean these conditions are almost twice as common as one of the well-known neurologic disorders of childhood, Duchenne muscular dystrophy.
Dr Howell leads this five year study of SEI in Victorian babies, which screens infants to identify those with SEI, then studies these babies to determine their symptoms and, where possible, the cause of their condition. Dr Howell notes, “approximately 50% of patients have an unknown cause for their SEI, so we are inviting these families to undergo genetic testing to help determine the cause of their illness.”
She hopes that the knowledge gained from this work will help international research efforts aimed at developing new treatments for these conditions.
Find out more about the Institute's Neuroscience research.