Prof Ingrid Scheffer
Chair of Paediatric Neurology Research
Department of Medicine
1010 Scholarly works
83 Projects
HIGHLIGHTS
2022
Research Grant
"Integrative-Omics" for Precision Medicine in the Epilepsies
2022
Research grants (ARC, NHMRC, MRFF)
"Integrative-Omics" for Precision Medicine in the Epilepsies
2021
Journal article
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials
DOI: 10.1111/epi.170152021
Journal article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
DOI: 10.1111/epi.167842020
Journal article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
DOI: 10.1111/dmcn.144282020
Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
DOI: 10.1038/s41431-020-0606-z2020
Research grants (ARC, NHMRC, MRFF)
Precision Medicine for a Life-Threatening Infantile Epilepsy
RECENT SCHOLARLY WORKS
2026
Journal article
Fenfluramine treatment and seizure-free days in pediatric and adult patients with Lennox-Gastaut syndrome: A post hoc analysis.
DOI: 10.1002/epi.705362026
Journal article
Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.
DOI: 10.1212/WNL.00000000002185412026
Journal article
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.
DOI: 10.1212/NXG.00000000002004162026
Journal article
How should etiology change the classification of the epilepsies? Report from the ILAE 2021-2025 Terminology Commission.
DOI: 10.1002/epi.704672026
Journal article
Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.
DOI: 10.1002/epi.704442026
Journal article
Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics.
DOI: 10.1002/epi4.703402026
Journal article
Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.
DOI: 10.1093/brain/awag2772026
Journal article
Automated reanalysis of genomic data for rare disease diagnostics at scale
DOI: 10.1038/s41591-026-04477-5