[ISS-L3] Genetics

[L-11] Neonatal seizures and sodium channelopathies

Katherine B. HOWELL (Royal Children's Hospital Melbourne, Australia)

Dr Katherine Howell is a paediatric neurologist and epileptologist at the Royal Children’s Hospital and a Clinician-Scientist Fellow at the Murdoch Children’s Research Institute in Melbourne, Australia. Her current areas of research focus are severe epilepsies of infancy, infantile spasms, genetic epilepsies and SCN2A-related disorders. She is the lead investigator on an international SCN2A natural history study. Her work is supported by the National Health and Medical Research Council of Australia, and biotechnology company, RogCon Biosciences, Inc.
Select publications include:
1. Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC, Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS. An epidemiological and cost-effectiveness study of early genetic testing in severe epilepsies of infancy. Epilepsia 2018.
2. #McTague A, #Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurology, 2015; 15:304-316 #These authors contributed equally
3. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JK, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, A Simon Harvey, Scheffer IE. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology, 2015; 85:958-966
4. Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Kaplan D, Scheffer IE, Berkovic SD, Petrou S. Dynamic clamp modelling predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. PNAS 2018.