Associated Papers
DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature.
Jesus-Ribeiro J et al.
Oxford Medical Case Reports, 2021
DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.
Liu L et al.
Frontiers in Neuroscience, 2020
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T et al.
Annals of Clinical and Translational Neurology, 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
Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA.
Hu S et al.
Annals of Neurology, 2018
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
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Carvill GL et al.
Neurology. Genetics, 2015
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