Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline +7 more·2013·Nature Genetics
DOI 10.1038/ng.2601

Cited by (269)

Items 201–269 of 269

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  3. Carphology by A Fo Ben
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  9. Molecular genetic management of epilepsy
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  10. Childhood and Adolescent Epileptic Syndromes
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  11. Epilepsy genetics—considerations for clinical practice today and for the future
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  12. Rolandic Epilepsy: Self-Limited Epilepsy with Centrotemporal Spikes
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  13. Treatment strategies targeting specific genetic etiologies in epilepsy
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  14. Epilepsy Inheritance
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  15. Genetic Counselling in Epilepsy
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  16. Getting Sucker Punched by Depdc5 Really Hurts
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  17. Insights into DEPDC5 -Related Epilepsy from 586 people: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
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  18. Ionenkanalerkrankungen des Gehirns – monogene Epilepsien
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  19. Stochastic models for the inference of life evolution
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  20. Molecular Targets on Antiepileptogenic Therapy Research: Deconstructing the Network for Translational Purposes
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  21. Genetic Advances in Epilepsy
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  22. Carphology by A Fo Ben
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  23. Commentary: GATOR Complex‐Associated Epilepsies
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  24. Seizures of the Frontal Lobes
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  25. Epilepsie und Chronobiologie
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  26. Familial Electro-clinical Syndromes and Epilepsies in Adolescence to Adulthood
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  27. Sleep-Related Epilepsy, Dysautonomia, and Sudden Nocturnal Death
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  28. Genome-wide Investigation of Rare Genetic Variation in Epilepsy and Autism Spectrum Disorder
    Farah Qaiser · 2020 · TSpace (University of Toronto)
  29. The Spectrum of DEPDC5 -Related Epilepsy
    Giulia Salomone, M. Comella, A. Portale, G. Pecora, G. Costanza, Manuela Lo Bianco, Sarah Sciuto, E. Praticò, R. Falsaperla · 2020 · Journal of Pediatric Neurology online
  30. Focale epilepsie en de GATOR1 complex genen
    Femke N. G. van ’t Hof, Eva H. Brilstra · 2021 · Epilepsie periodiek voor professionals
  31. Genetic Counselling in Epilepsy
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  32. Circuits neuronaux et comportement
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    Alexander Fleischmann · 2012 · L’annuaire du Collège de France
  35. Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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  36. Elucidating the molecular pathology of DEPDC5 mutation induced mTOR-hyperactivation associated with epilepsy and autism spectrum disorder
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  37. Einfluss einer mTOR-Überaktivierung auf die neuronale Zellmorphologie in-vitro
    Ludwig, Johannes · 2023
  38. Evaluating Clinical Presentation and Long-Term Outcomes in Individuals with Genetic and Non-Genetic Epilepsy Treated with Epilepsy Surgery: A Single-Center Study
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  39. DEPDC5-related familial focal epilepsy
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  40. Familial occurrence of seizure disorders across MRI defined structural focal epilepsy etiology
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  41. Brain Mosaicism in Epileptogenic Cortical Malformations
    Théo Ribierre, Stéphanie Baulac · 2024
  42. Epilepsy genetics in clinical practice today and for the future
    Alica M. Goldman, Jeffrey L. Noebels · 2024 · Elsevier eBooks
  43. Neuronal Proliferation
    Alissa M. D’Gama, Annapurna Poduri, Joseph J. Volpe · 2024 · Elsevier eBooks
  44. GATOR1 gene variants in focal epilepsy
    M. Kovačević, Nikola M. Vojvodić, Ivana Novaković · 2024 · Medicinski Podmladak
  45. Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea
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  46. Dual Diagnosis of Fragile X Syndrome and DEPDC5‐Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review
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  47. Classification des épilepsies et des syndromes épileptiques
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  48. Early death and neuronal abnormalities in depdc5 loss-of-function mosaic zebrafish models
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  49. Fehlende Erblichkeit bei genetisch komplexen Erkrankungen
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  50. Additional file 1 of Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies
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  51. Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese children
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  52. Predictors of etiology and drug resistance in children with new‐onset focal seizures
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  53. Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan
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  54. Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy
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  55. Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy
    Cong Zhou, Xing Wei, Qinqin Xiang, Jingqun Mai, Jia‐Yi Wang · 2026 · Neurogenetics
  56. Étude moléculaire du syndrome des spasmes infantiles et des épilepsies familiales benignes
    Nadia Boutry‐Kryza · 2014 · theses.fr (ABES)
  57. Mise en évidence de l'implication de la voie GATOR1-mTORC1 dans les épilepsies et dysplasies corticales focales
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  58. Mechanisms of C9ORF72 pathogenicity and related autophagy impairment in amyotrophic lateral sclerosis
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  59. Caractérisation et intérêt thérapeutique de potentialisateurs du co-transporteur potassium-chlorure de type 2 (KCC2) dans les épilepsies du lobe temporal
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  60. Cortical organoid model of DEPDC5-related focal cortical dysplasia and epilepsy
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  61. Investigations génétiques et physiopathologiques des dysplasies corticales focales de type 2
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  62. Études du rôle des protéines astrocytaires pannexines et connexines dans la physiopathologie de l'épilepsie et le comportement
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  63. The role of GATOR1 complex, upstream regulator of mTORC1 pathway, in mitochondrial function
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  64. Functional characterization of the GATOR1 complex in cisplatin resistance
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  65. Disorders of Arousal and Sleep-Related Hypermotor Epilepsy in Adults: A Challenging but Necessary and Critical Distinctive Diagnosis
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  66. Neuroimaging spectrum of GATOR1-related epilepsy (GATORopathies)
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  67. GATOR1 signaling defects promote astrocytic metabolic rewiring and excitatory neurotransmitter cycling
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  68. DEPDC5: Modeling of the Two-Hit Wonder in Cortical Organoids
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  69. Molecular Mechanisms of Seizure Gating in Sleep-Related Epilepsy: Genes, Channels, Sleep Stages and Circadian Rhythm
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