Prof Ingrid Scheffer
Chair of Paediatric Neurology Research
Department of Medicine
998 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
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.
DOI: 10.1212/NXG.00000000002004162026
Journal article
Automated reanalysis of genomic data for rare disease diagnostics at scale
DOI: 10.1038/s41591-026-04477-52026
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
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies
DOI: 10.1002/epi.702202026
Journal article
Primary Results of the 12-month Open-label Extension of the Phase 1b/2a PACIFIC Trial of Bexicaserin for the Treatment of Seizures in Participants with Developmental and Epileptic Encephalopathies Demonstrates Long-term Safety, Tolerability, and Efficacy (P11-10.004)
DOI: 10.1212/wnl.00000000002153862026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
Journal article
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
DOI: 10.1002/epi4.70266