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.
Laureate Professor, Department of Medicine, University of Melbourne · Director, Epilepsy Research Centre, Austin Health · Fellow of the Royal Society (2007) · Fellow, Australian Academy of Science (2005) · Companion of the Order of Australia (2014)
Portrait: Epilepsy Research Centre, Austin Health / University of Melbourne
Sam Berkovic is a neurologist in Melbourne who studies epilepsy, a condition where brain cells fire in abnormal bursts. He directs the Epilepsy Research Centre at Austin Health and is a Laureate Professor at the University of Melbourne. His honours include Fellow of the Royal Society and Companion of the Order of Australia.
The 2013 Nature Genetics study in the Atlas, led by Leanne Dibbens with Berkovic and Ingrid Scheffer as the final authors, looked at families in which different relatives had seizures starting in different parts of the brain. Exome sequencing, which reads all the protein-coding genes, found mutations in DEPDC5 in two families, and in five of six further published large families. About 12 percent of smaller families with focal epilepsy (10 of 82) also carried DEPDC5 mutations.
DEPDC5 is a subunit of GATOR1, the complex that switches mTORC1 off when amino acids are scarce. When it is damaged, mTORC1 can stay too active in brain cells. This is why the paper is a link between a human genetic disease and the mTOR pathway, although the paper itself pointed only to a role in neuronal signalling.
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 Senior author (with Ingrid Scheffer): DEPDC5 loss-of-function mutations cause familial focal epilepsy with variable foci. |
Co-authors in the Atlas
People with a profile here who share at least one study with Samuel F. Berkovic.
- 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.
Every researcher with a profile →
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