ArticleNature genetics2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 165 papers, 1 of them a synthesis that pooled it.
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Who cites it
165 citing papers in PubMed, 1 synthesis or guideline pooled it, 359 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Presumed sensory-onset focal aware seizures with transient speech arrest in a child with pathogenic DEPDC5-related epilepsy.Acta neurologica Belgica · 2026Article
- Molecular Mechanisms of Seizure Gating in Sleep-Related Epilepsy: Genes, Channels, Sleep Stages and Circadian Rhythm.Current issues in molecular biology · 2026Review
- DEPDC5: Modeling of the Two-Hit Wonder in Cortical Organoids.Epilepsy currents · 2026Article
- Neuroimaging spectrum of GATOR1-related epilepsy (GATORopathies).Neuroradiology · 2026Article
- Article
- Navigating diagnostic overlap between seizures and movement disorders: A practical clinical approach.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.Neurogenetics · 2026Article
- Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.Epilepsia · 2026Article
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Article
- Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity.Frontiers in genetics · 2026Review
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy.JCI insight · 2025Article
- Expanding clinical phenotype in CACNA1C related disorders: familial mesial temporal lobe epilepsy.Acta epileptologica · 2025Article
- The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.Epilepsia · 2025Article
- Sleep-related hypermotor epilepsy-No longer controversial.Epilepsia · 2025Article
- De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy.Molecular genetics & genomic medicine · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.Neurogenetics · 2025Article
105 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 19 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because family members have seizures originating from different cortical regions. Using exome sequencing, we detected DEPDC5 mutations in two affected families. We subsequently identified mutations in five of six additional published large families with FFEVF. Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies. Shared homology with G protein signaling molecules and localization in human neurons suggest a role of DEPDC5 in neuronal signal transduction.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.