Associated Papers
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA et al.
Brain : a Journal of Neurology, 2023
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.
Zhang X et al.
Frontiers in Neurology, 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
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
van Kranenburg M et al.
Human Mutation, 2015
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal D et al.
Annals of Neurology, 2014
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