Sophie J. Hall-Russ

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 14 publications

Identification of an episignature for the MEF2C-associated syndrome.

Identification of an episignature for the MEF2C-associated syndrome.

Journal: European journal of human genetics : EJHG

Published: March 25, 2025

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Journal: Epilepsia

Published: December 17, 2024

Eating habits and behaviors in children with Dravet syndrome: A case-control study.

Eating habits and behaviors in children with Dravet syndrome: A case-control study.

Journal: Epilepsia

Published: September 02, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: May 09, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: March 20, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

Journal: medRxiv : the preprint server for health sciences

Published: October 24, 2023

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Journal: Nature communications

Published: October 20, 2023

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2023

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: April 06, 2023

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.

Journal: Brain communications

Published: February 08, 2023

Does long-term phenytoin have a place in Dravet syndrome?

Does long-term phenytoin have a place in Dravet syndrome?

Journal: Annals of clinical and translational neurology

Published: September 12, 2022

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.

Journal: Neurology

Published: August 06, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026