Prof Ingrid Scheffer
Chair of Paediatric Neurology Research
Department of Medicine
992 Scholarly works
82 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
On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiology.
DOI: 10.1002/epi4.702822026
Journal article
Viewpoint: Decline in Speech and Language Skills May Signal Childhood Dementia.
DOI: 10.1044/2026_AJSLP-25-003102026
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
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
DOI: 10.1002/epi.700962026
Journal article
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
DOI: 10.1016/j.gim.2026.1016852026
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
DOI: 10.1038/s41588-026-02547-52026
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
Lysophosphatidic acid–mediated NF-κB activation promotes FOXC2 expression essential for lymphatic valve development
DOI: 10.1172/jci193364