Associated Papers
The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.
Jones MSO et al.
Epilepsia, 2025
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Lee WS et al.
International Journal of Molecular Sciences, 2022
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.
Zhang X et al.
Frontiers in Neurology, 2021
Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy.
Xiong W et al.
Acta Neurologica Scandinavica, 2019
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS et al.
Neurology, 2016
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
Scheffer IE et al.
Annals of Neurology, 2014
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.
Kaur A
Clinical Genetics, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM et al.
Nature Genetics, 2013
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies.
Malpass K
Nature Reviews. Neurology, 2013
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