Associated Papers
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature.
Jesus-Ribeiro J et al.
Oxford Medical Case Reports, 2021
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
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Pilarowski GO et al.
Journal of Medical Genetics, 2018
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
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
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
D'Gama AM et al.
Annals of Neurology, 2015
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
van Kranenburg M et al.
Human Mutation, 2015
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM et al.
Nature Genetics, 2013
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