Leanne M. Dibbens
Epilepsy geneticist at the University of South Australia who found that mutations in DEPDC5, part of the GATOR1 brake on mTORC1, cause familial focal epilepsy
Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia (papers to 2025)
Some families pass down epilepsy in which seizures start in one part of the brain, a different part in different relatives. Leanne Dibbens is first author of a 2013 study that found a gene behind it (DIB2013B). By reading the protein-coding DNA of affected families and tracking which stretch of DNA travelled with the disease, the team found loss-of-function mutations in DEPDC5 in most large families studied and in about 12% of smaller ones. DEPDC5 is part of GATOR1, a complex that switches off mTORC1 when amino acids are scarce, so the finding tied a common form of inherited epilepsy to the mTOR pathway. The study is genetic; it did not measure mTOR activity itself, and the link to mTORC1 rests on the known role of GATOR1.
Dibbens leads epilepsy genetics work in Adelaide, with about 80 papers on PubMed. A 2025 study with the group used the structure of the KCNT1 potassium channel to screen known drugs for ones that block the overactive channel found in severe childhood epilepsies, tested them in cells and in fruit flies carrying the human mutation, and identified antrafenine as a candidate that also reaches the brain in mice.
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 First author: identified loss-of-function DEPDC5 mutations, a GATOR1 subunit, as a cause of familial focal epilepsy with variable foci. |
Co-authors in the Atlas 2
People with a profile here who share at least one study with Leanne M. Dibbens.
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- 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.
- 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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