Dr Sarah Stephenson
Honorary (Fellow)
Department of Paediatrics
117 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
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/fcag2242025
Journal article
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
DOI: 10.1038/s41525-025-00474-82025
Journal article
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
DOI: 10.1093/braincomms/fcaf0342024
Journal article
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
DOI: 10.1212/NXG.00000000002001352024
Journal article
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
DOI: 10.1093/brain/awad379
RECENT SCHOLARLY WORKS
2024
Journal article
Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome
DOI: 10.1080/14737175.2024.23601172024
Journal article
Orexin 2 receptor antagonism sex-dependently improves sleep/wakefulness and cognitive performance in tau transgenic mice
DOI: 10.1111/bph.162122023
Journal article
Pathogenic RHEB Somatic Variant in a Child with Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2
DOI: 10.1212/WNL.0000000000207177