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 101–200 of 269

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    Christina Canavati, K. Klein, Z. Afawi, M. Pendziwiat, Amal Abu Rayyan, Lara Kamal, F. Zahdeh, Ikram Qaysia, I. Helbig, M. Kanaan · 2019 · Epilepsia
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  7. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy
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  8. Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery
    Hao Wang, Wenwei Liu, Yue-Hua Zhang, Qing-Zhu Liu, Li-Xin Cai, Yu-Wu Jiang · 2023 · Epilepsia Open
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  17. A variant in the MICA gene is associated with liver fibrosis progression in chronic hepatitis C through TGF-β1 dependent mechanisms
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  18. Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
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  19. Epilepsy genetics: The ongoing revolution
    Gaëtan Lesca, Christel Depienne · 2015 · Revue Neurologique
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  22. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
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  26. Depdc5 deficiency exacerbates alcohol-induced hepatic steatosis via suppression of PPARα pathway
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  27. Correlation between the DEPDC5 rs1012068 polymorphism and the risk of HBV-related hepatocellular carcinoma.
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  28. GATORs Take a Bite Out of mTOR
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  29. Variants inCHRNB2andCHRNA4Identified in Patients with Insular Epilepsy
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  30. A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci
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  31. Neues auf dem Gebiet der Epilepsien
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  35. DEPDC5 takes a second hit in familial focal epilepsy
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  36. Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies
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  37. mTOR pathway in familial focal epilepsies
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  38. A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant
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  39. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
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  40. Variations in DEPDC5 gene and its association with chronic hepatitis C virus infection in Saudi Arabia
    M. Al-Anazi, Sabine Matou-Nasri, Ayman A. Abdo, F. Sanai, M. Khan, A. Albenmousa, H. Al-ashgar, N. Khalaf, M. Al-Ahdal, A. Al-Qahtani · 2014 · BMC Infectious Diseases
  41. DEPDC5-Related Epilepsy
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  42. Longin domain GAP complexes in nutrient signaling, membrane traffic, and neurodegeneration
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  43. Novel GATOR1 variants in focal epilepsy
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  44. Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
    Yulin Sun, Lin Wan, Huimin Yan, Zhichao Li, Guang Yang · 2021 · Frontiers in Neurology
  45. SeqBench: Integrated solution for the management and analysis of exome sequencing data
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  46. Somatic Mosaicism and Neurological Diseases
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  47. Pathophysiology of Epilepsy
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  48. Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy.
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  49. Global characterization of copy number variants in epilepsy patients from whole genome sequencing
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    Yufang Yang, Jinmei Tuo, Jun Zhang, Zucai Xu, Zhong Luo · 2024 · Frontiers in Neurology
  51. Ragopathies and the rising influence of RagGTPases on human diseases
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  52. DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
    Chun-Yu Gu, Xinping Wei, D. Yan, Yingzi Cai, Dong Li, Jian-Bo Shu, Chun-Quan Cai · 2024 · Epileptic disorders
  53. Phenotypic spectrum in families with mesial temporal lobe epilepsy probands
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  54. The genetics of common epilepsies: common or distinct?
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  55. Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment
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  56. Age-Dependent Activation of Purinergic Transmission Contributes to the Development of Epileptogenesis in ADSHE Model Rats
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  57. New technologies in molecular genetics
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  58. Genetic causes of rare and common epilepsies: What should the epileptologist know?
    Gaëtan Lesca, Tobias Res Baumgartner, Pauline Monin, Angela De Dominicis, Wolfram S. Kunz, Nicola Specchio · 2022 · European Journal of Medical Genetics
  59. Autosomal dominant lateral temporal epilepsy (ADLTE): Absence of chromosomal rearrangements in LGI1 gene
    Ida Manna, Laura Mumoli, Angelo Labate, Luigi Citrigno, Edoardo Ferlazzo, Umberto Aguglia, Aldo Quattrone, Antonio Gambardella · 2013 · Epilepsy Research
  60. Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.
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  61. Investigation of long interspersed element‐1 retrotransposons as potential risk factors for idiopathic temporal lobe epilepsy
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  62. Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug‐resistant focal epilepsy
    Weixi Xiong, Lin Tang, Lu Lu, Le Zhang, Yingfeng Xiao, Dong Zhou · 2018 · Acta Neurologica Scandinavica
  63. Clinical and genetic features of GATOR1 complex-associated epilepsy
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  64. Insights Into DEPDC5 -Related Epilepsy From 586 People
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