Prof Ingrid Scheffer
Chair of Paediatric Neurology Research
Department of Medicine
986 Scholarly works
81 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
Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies
DOI: 10.1007/s40263-026-01276-x2026
Journal article
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
DOI: 10.1016/j.gim.2026.1016852026
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
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
DOI: 10.1172/JCI1933642026
Journal article
Time to Change the Drug Trial Paradigm for Dravet Syndrome: Designing Trials for the Disease Rather than Squeezing the Disease into the Trial
DOI: 10.1002/ana.781112026
Journal article
MTORopathy With Striking Progression on Imaging in Adulthood
DOI: 10.1212/wn9.00000000000000562026
Journal article
Cognitive stagnation and executive function deficits in young children with SCN1A Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study
DOI: 10.1111/epi.700152026
Journal article
Transcription Factor Binding and Individual Genetic Risk of Valproate Teratogenicity
DOI: 10.1212/WNL.0000000000214570