Associated Papers
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
Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.
de Calbiac H et al.
Annals of Clinical and Translational Neurology, 2018
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Weak_segregation_support
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
van Kranenburg M et al.
Human Mutation, 2015
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.
Kaur A
Clinical Genetics, 2013
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S et al.
Nature Genetics, 2013
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