Dr Sarah Stephenson
Honorary (Fellow)
Department of Paediatrics
115 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
DOI: 10.1212/WNL.00000000002146452025
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/awad3792024
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.16212
RECENT SCHOLARLY WORKS
2023
Journal article
Pathogenic RHEB Somatic Variant in a Child with Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2
DOI: 10.1212/WNL.00000000002071772023
Journal article
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia
DOI: 10.1002/epi4.126782022
Journal article
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
DOI: 10.1016/j.ajhg.2022.03.002