Dr Katherine Howell
Honorary (Principal Fellow)
Department of Paediatrics
19 Scholarly works
0 Projects
HIGHLIGHTS
2025
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.00000000002138682025
Journal article
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
DOI: 10.1093/braincomms/fcaf0342025
Journal article
Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy
DOI: 10.1093/brain/awae2132025
Journal article
Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies
DOI: 10.1016/j.ejpn.2025.01.0072024
Journal article
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)
DOI: 10.1002/ana.270412024
Journal article
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing
DOI: 10.1016/j.nbd.2024.106657
RECENT SCHOLARLY WORKS
2023
Journal article
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
DOI: 10.1111/dmcn.153082022
Journal article
Response to sequential treatment with prednisolone and vigabatrin in infantile spasms
DOI: 10.1111/jpc.161812022
Journal article
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants
DOI: 10.1038/s42003-022-03454-1