GATOR1 complex: the common genetic actor in focal epilepsies
Open accessAbstract
The mammalian or mechanistic target of rapamycin (mTOR) signalling pathway has multiple roles in regulating physiology of the whole body and, particularly, the brain. Deregulation of mTOR signalling has been associated to various neurological conditions, including epilepsy. Mutations in genes encoding components of Gap Activity TOward Rags 1 (GATOR1) ( DEPDC5 , NPRL2 and NPRL3 ), a complex involved in the inhibition of the mTOR complex 1 (mTORC1), have been recently implicated in the pathogenesis of a wide spectrum of focal epilepsies (FEs), both lesional and non-lesional. The involvement of DEPDC5 , NPRL2 and NRPL3 in about 10% of FEs is in contrast to the concept that specific seizure semiology points to the main involvement of a distinct brain area. The hypothesised pathogenic mechanism underlying epilepsy is the loss of the inhibitory function of GATOR1 towards mTORC1. The identification of the correct therapeutic strategy in patients with FE is challenging, especially in those with refractory epilepsy and/or malformations of cortical development (MCDs). In such cases, surgical excision of the epileptogenic zone is a curative option, although the long-term outcome is still undefined. The GATOR1/mTOR signalling represents a promising therapeutic target in FEs due to mutations in mTOR pathway genes, as in tuberous sclerosis complex, another MCD-associated epilepsy caused by mTOR signalling hyperactivation.
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Mutations in the mammalian GATOR1 genes have been linked to focal epilepsies and familial cortical dysplasia, previously not considered to have an underlying genetic basis.
“Mutations in the mammalian GATOR1 genes have been recently linked to focal epilepsies and familial cortical dysplasia, previously not considered to have an underlying genetic basis, supporting a multifaceted role for these proteins in multiple cellular processes (Baldassari et al., 2016; Ricos et al., 2016).”
From Signal integration in the (m)TORC1 growth pathway (2018) · cites this paper as Baldassari et al., 2016
KICSTOR plays a role in the GATOR1-dependent repression of mTORC1 signaling.
“Consistent with the notion that these abnormalities are associated with mTORC1 hyperactivation and GATOR1 inactivation (Baldassari et al., 2016; Baulac, 2016), KICSTOR clearly plays a role in the GATOR1-dependent repression of mTORC1 signaling.”
From Signal integration in the (m)TORC1 growth pathway (2018) · cites this paper as Baldassari et al., 2016
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Iffland, P. H., Carson, V., Bordey, A., & Crino, P. B. (2019) · Epilepsia · doi:10.1111/epi.16370 · Cited by 84 · see citing works
Signal integration in the (m)TORC1 growth pathway
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- Authors
- Baldassari, S., Licchetta, L., Tinuper, P., Bisulli, F., & Pippucci, T.
- Affiliations
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Azienda USL di Bologna (IT)
- Corresponding author
- Bisulli, Francesca
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2016-05-19
- Volume
- 53
- Issue
- 8
- Pages
- 503-510
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2400873831
- Cited by
- 80
- References
- 72
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 6 · 2023: 13 · 2022: 10 · 2021: 13 · 2020: 4 · 2019: 6 · 2018: 4 · 2017: 9
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Fondazione Telethon (GGP13200)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Keywords
- GATOR1 complex, focal epilepsy, mTOR signaling, mTORC1 inhibition, DEPDC5, NPRL2, NPRL3, genetic epilepsy, malformations of cortical development, drug-resistant epilepsy, tuberous sclerosis complex, epilepsy surgery, therapeutic target
- MeSH terms
- Mechanistic Target of Rapamycin Complex 1, Animals, Brain, Epilepsies, Partial, Humans, Mutation, Signal Transduction, Multiprotein Complexes, TOR Serine-Threonine Kinases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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