Dr Katherine Howell
Dr Katherine Howell
Details
Role
Group Leader/Clinician-Scientist Fellow
Research area
Clinical Sciences
Group
Neuroscience
Associate Professer Katherine Howell is the Group Leader of Neuroscience and a Clinician-Scientist Fellow at Murdoch Children's Research Institute.
Her work combines clinical care with leading research aimed at improving diagnosis, understanding genetic causes, and advancing treatment options for rare and complex epilepsies. Rare epilepsies are often very severe, particularly when they begin in infancy, and many of these conditions do not have adequate treatment.
Katherine is a Clinical Scientist Fellow generously funded by the Good Friday Appeal.
Her work combines clinical care with leading research aimed at improving diagnosis, understanding genetic causes, and advancing treatment options for rare and complex epilepsies. Rare epilepsies are often very severe, particularly when they begin in infancy, and many of these conditions do not have adequate treatment.
Katherine is a Clinical Scientist Fellow generously funded by the Good Friday Appeal.
Associate Professer Katherine Howell is the Group Leader of Neuroscience and a Clinician-Scientist Fellow at Murdoch Children's Research Institute.
Her work combines clinical care with leading research aimed at improving diagnosis, understanding...
Her work combines clinical care with leading research aimed at improving diagnosis, understanding...
Associate Professer Katherine Howell is the Group Leader of Neuroscience and a Clinician-Scientist Fellow at Murdoch Children's Research Institute.
Her work combines clinical care with leading research aimed at improving diagnosis, understanding genetic causes, and advancing treatment options for rare and complex epilepsies. Rare epilepsies are often very severe, particularly when they begin in infancy, and many of these conditions do not have adequate treatment.
Katherine is a Clinical Scientist Fellow generously funded by the Good Friday Appeal.
Her work combines clinical care with leading research aimed at improving diagnosis, understanding genetic causes, and advancing treatment options for rare and complex epilepsies. Rare epilepsies are often very severe, particularly when they begin in infancy, and many of these conditions do not have adequate treatment.
Katherine is a Clinical Scientist Fellow generously funded by the Good Friday Appeal.
Top Publications
- Nguyen, JNH, Lachgar-Ruiz, M, Higginbotham, EJ, Coleman, M, Coleman, J, Shao, W, Scotchman, E, Pritchard, AJ, Bell, KM, Chitty, LS, et al. Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.. Neurology 106(6) : e214645 2026 view publication
- Tan, M, Goad, BS, Allen, M, Rodda, J, Richards, KL, Ardern-Holmes, SL, Bamborschke, D, Fritzen, D, Hughes, I, Riney, K, et al. Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.. Epilepsia 2026 view publication
- Johannesen, KM, Liu, Y, Gjerulfsen, CE, Koko, M, Sonnenberg, L, Schubert, J, Fenger, CD, Eltokhi, A, Rannap, M, Koch, NA, et al. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. 2026 view publication
- AlMail, A, Jamjoom, A, Pan, A, Feng, MY, Chau, V, D’Gama, A, Howell, K, Liang, NSY, McTague, A, Poduri, A, et al. Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelines. 2026 view publication
- Spyrou, J, Aung, KP, Vanyai, H, Leventer, RJ, Maljevic, S, Lockhart, PJ, Howell, KB, Reid, CA. Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing in the developing brain. 2026 view publication
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