Dr Katherine Howell
Honorary Principal Fellow
Department of Paediatrics
27 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy
DOI: 10.1007/s00401-026-03059-62026
Journal article
Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.
DOI: 10.1212/WNL.00000000002185412026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
Journal article
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
DOI: 10.1002/epi4.702662026
Journal article
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
DOI: 10.1002/epi.701002026
Journal article
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
DOI: 10.1212/WNL.00000000002146452026
Journal article
Late-onset epileptic spasms: presentation, aetiology and outcome
DOI: 10.1093/braincomms/fcag224
RECENT SCHOLARLY WORKS
2026
Journal article
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia
DOI: 10.1016/j.pnpbp.2026.1119202025
Journal article
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
DOI: 10.1002/ana.272772025
Journal article
Development and Adaptive Function in Individuals with SCN2A-Related Disorders
DOI: 10.1212/WNL.0000000000213868