Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Berkovic SF, Scheffer IE · 2013 · Nature Genetics · Atlas ID DIB2013B

What this study shows

Exome sequencing and linkage in families with autosomal dominant familial focal epilepsy with variable foci identified loss-of-function mutations in DEPDC5, a GATOR1 subunit, in 5 of 6 additional published large families and in roughly 12% (10/82) of smaller focal-epilepsy families. This is the human genetic anchor for GATOR1's physiological importance: it supports that loss of a GATOR1 subunit produces a human phenotype. Observational genetic association within families, not an interventional study, and the paper carries no mTORC1 readout of its own - the link to the pathway rests on the molecular work (BAR2013, SHE2018), not on this study.

At a glance

Evidence type	H Human study Marked H because it is direct evidence from a human clinical trial or human cohort; the code names the kind of study, not its quality -- a small, well-run trial is still H.
Study type	3 - Human Observational
Model system	Humans; families with focal epilepsy (exome sequencing + linkage; 10/82 families)
Journal	Nature Genetics
Year	2013
Peer reviewed	Yes
Record last updated	2026-10-01
Source	DOI 10.1038/ng.2599 · PMID 23542697

In the Atlas

Cite this paper

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Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Berkovic, S. F., & Scheffer, I. E. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics. https://doi.org/10.1038/ng.2599

@article{DIB2013B,
  author       = {Dibbens, L. M. and de Vries, B. and Donatello, S. and Heron, S. E. and Hodgson, B. L. and Berkovic, S. F. and Scheffer, I. E.},
  title        = {{Mutations in DEPDC5 cause familial focal epilepsy with variable foci}},
  journal      = {Nature Genetics},
  year         = {2013},
  doi          = {10.1038/ng.2599},
  note         = {PMID: 23542697},
}

Cite this Atlas record

The record is the Atlas's own work — the evidence label, the extracted findings and the links. It is cited as part of the dataset, not as the paper.

Barton, O. (2026). Oliver's mTOR Atlas (record DIB2013B) [Data set]. https://mtor-atlas.org/study/DIB2013B/ · Dataset DOI 10.5281/zenodo.22059963

@misc{atlas_DIB2013B,
  author       = {Barton, Oliver},
  title        = {{Oliver's mTOR Atlas}, record DIB2013B},
  howpublished = {Data set},
  year         = {2026},
  url          = {https://mtor-atlas.org/study/DIB2013B/},
  doi          = {10.5281/zenodo.22059963}
}

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