Ingrid E. Scheffer
Paediatric neurologist and epilepsy researcher who defined new epilepsy syndromes and helped identify epilepsy genes, including DEPDC5, a GATOR1 gene that connects inherited focal epilepsy to the mTOR pathway.
Professor, University of Melbourne · Honorary Senior Principal Research Fellow, The Florey Institute · Director of Paediatrics, Austin Health · Fellow of the Royal Society (2018) · Officer of the Order of Australia (2014)
Portrait: The Royal Society
Ingrid Scheffer is a doctor and researcher who works on epilepsy in children. Her work includes describing new epilepsy syndromes and finding the genes behind them. According to the Royal Society, her research led to the identification of the first epilepsy gene in 1995, and many more genes have been found since.
In the study in this Atlas she is the last author of a paper on families with an inherited form of focal epilepsy, in which seizures start in different brain regions in different relatives. The team found that loss-of-function changes in a gene called DEPDC5 ran in these families. DEPDC5 makes part of GATOR1, a protein complex that holds the mTORC1 pathway in check.
The paper did not measure mTORC1 itself, so the link to mTOR comes from other molecular work. What it adds is a human case: damage to one part of the brake on mTORC1 is enough to cause a brain disorder in people.
Milestones in the Atlas
A selection, not a full bibliography: only papers that meet the Atlas inclusion criteria.
| Year | Evidence | Study |
|---|---|---|
| 2013 | H | Mutations in DEPDC5 cause familial focal epilepsy with variable foci DIB2013B Last author. Families with focal epilepsy of variable foci carry loss-of-function mutations in DEPDC5 (a GATOR1 subunit), found in about 12% of smaller families tested; a genetic association, with no mTORC1 readout in the paper itself. |
Co-authors in the Atlas
People with a profile here who share at least one study with Ingrid E. Scheffer.
- Samuel F. Berkovic Neurologist who helped establish the genetic causes of many epilepsies, including the discovery that DEPDC5 mutations, which affect the mTORC1 brake GATOR1, cause familial focal epilepsy.
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