Details

Role Team Leader / Clinician-Scientist Fellow

Research area Clinical Sciences

Group Neuroscience

Top Publications

Palmer, EE, Howell, K, Scheffer, IE. Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies. Neurotherapeutics 18(3) : 1432 -1444 2021
view publication
Vetro, A, Nielsen, HN, Holm, R, Hevner, RF, Parrini, E, Powis, Z, Møller, RS, Bellan, C, Simonati, A, Lesca, G, et al. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.. Brain 144(5) : 1435 -1450 2021
view publication
Howell, KB, Freeman, JL, Mackay, MT, Fahey, MC, Archer, J, Berkovic, SF, Chan, E, Dabscheck, G, Eggers, S, Hayman, M, et al. The severe epilepsy syndromes of infancy: A population‐based study. Epilepsia 62(2) : 358 -370 2021
view publication
Bar, C, Kuchenbuch, M, Barcia, G, Schneider, A, Jennesson, M, Le Guyader, G, Lesca, G, Mignot, C, Montomoli, M, Parrini, E, et al. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. Epilepsia 61(11) : 2461 -2473 2020
view publication
Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, de Silva, MG, et al. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Obstetrical & Gynecological Survey 75(11) : 662 -664 2020
view publication