Sarah M. Stephenson

Lucas Heights
NSW 2234, Australia

Last Updated: 09/26/2026

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Found 37 publications

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Journal: JAMA neurology

Published: May 04, 2026

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Journal: Neurology

Published: February 13, 2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: Progress in neuro-psychopharmacology & biological psychiatry

Published: November 23, 2025

Late-onset epileptic spasms: presentation, aetiology and outcome.

Late-onset epileptic spasms: presentation, aetiology and outcome.

Journal: Brain communications

Published: August 04, 2025

Metal lability, sea ice cover, and physicochemical properties of sediments as predictors of benthic communities in Antarctic coastal environments.

Metal lability, sea ice cover, and physicochemical properties of sediments as predictors of benthic communities in Antarctic coastal environments.

Journal: Environmental pollution (Barking, Essex : 1987)

Published: November 25, 2024

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Journal: Brain communications

Published: September 12, 2024

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Journal: NPJ genomic medicine

Published: September 05, 2024

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

Journal: Expert review of neurotherapeutics

Published: May 30, 2024

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.

Journal: Brain : a journal of neurology

Published: June 30, 2023

Orexin 2 receptor antagonism sex-dependently improves sleep/wakefulness and cognitive performance in tau transgenic mice.

Orexin 2 receptor antagonism sex-dependently improves sleep/wakefulness and cognitive performance in tau transgenic mice.

Journal: British journal of pharmacology

Published: February 08, 2023

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.

Journal: Neurology

Published: October 10, 2022

Showing 1-12 of 37

Last Updated: 09/26/2026