Associated Papers
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.
Li B et al.
Neurogenetics, 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
DEPDC5 protects CD8+ T cells from ferroptosis by limiting mTORC1-mediated purine catabolism.
Li S et al.
Cell Discovery, 2024
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A et al.
Annals of Neurology, 2022
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.
Weng OY et al.
Frontiers in Molecular Neuroscience, 2022
Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia.
Blumcke I et al.
Brain Pathology (zurich, Switzerland), 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Blümcke I et al.
Epilepsia, 2021
DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons.
Klofas LK et al.
Neurobiology of Disease, 2020
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM et al.
Cell Reports, 2017
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal D et al.
Annals of Neurology, 2014
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