Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreiber, Stefan, Bassuk, Alexander G., Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E.·2010·PLoS Genetics
DOI 10.1371/journal.pgen.1000962

Cited by (469)

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  10. Prenatal Environmental Exposure and Neurodevelopmentally Important Gene Expression in Malformed Brain Tissue from Pediatric Intractable Epilepsy Patients
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  11. ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
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  16. Genetic Aspects of Human Epilepsy
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  17. Epilepsia e Comorbilidades Psiquiátricas Epilepsy and Psychiatric Comorbidities
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  18. Gene expression and copy number variation in common complex diseases
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  19. Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
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  21. Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies
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  22. Finding the Missing Pieces: The Microdeletion Burden in GGE
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  23. A systems biology approach to interpret the pharmacogenomic role of copy number variations in a patient with refractory epilepsy and intellectual disability
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  24. Genome-wide Investigation of Rare Genetic Variation in Epilepsy and Autism Spectrum Disorder
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  25. Morphological, behavioral and molecular studies on CRISPR/Cas9-mediated knockout of the NOMO1 gene in zebrafish
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  26. Genetic determinants of autism spectrum disorders - a review
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  27. Genetik
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  28. Genetic Counselling in Epilepsy
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  29. Imaging Network Alterations in Patients With Genetic Generalized Epilepsy and Their Healthy Siblings Using Magneto- and Electroencephalography
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  30. Late Breaking Chromosomes
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  31. Strategies for Studying the Epilepsy Genome
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  32. Ketogenic Diet, Adenosine, Epigenetics, and Antiepileptogenesis
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  33. Faculty Opinions recommendation of Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
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  34. Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation
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  35. Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
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  37. Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes
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  38. Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes
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  39. Genetic epilepsy and role of mutation variants in 27 epileptic children: results from a “single tertiary centre” and literature review
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  40. Epilepsy genetics in clinical practice today and for the future
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  41. Compounding of rare pathogenic copy-number variants and polygenic background is consistent with assortative mating
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  42. Genotype–phenotype analysis of pathogenic copy number variations in pediatric epilepsy
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  43. Genetik der Epilepsien
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  44. Epilepsy
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  45. Additional file 4 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
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  46. Additional file 2 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  47. Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  48. Additional file 7 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  49. Additional file 1 of Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion
    Jensen, Matthew, Anastasia Tyryshkina, Lucilla Pizzo, Corrine Smolen, Maitreya Das, Emily Huber, Krishnan, Arjun, Santhosh Girirajan · 2021 · Figshare
  50. Additional file 3 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  51. Additional file 8 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  52. Additional file 6 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  53. Additional file 2 of Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
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  54. Additional file 3 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  55. Additional file 5 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
    García-Hernández, Juan L., Luis Antonio Corchete, Íñigo Marcos‐Alcalde, Gómez-Puertas, Paulino, Carmen Fons, Lazo, Pedro A. · 2021 · Figshare
  56. Additional file 3 of Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
    Christophe Gauld, Alice Poisson, Julie Reversat, Élodie Peyroux, Françoise Houdayer-Robert, Massimiliano Rossi, Gaëtan Lesca, Damien Sanlaville, Caroline Demily · 2021 · Figshare
  57. Additional file 2 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  58. Additional file 1 of Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
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  59. Additional file 1 of Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
    Christophe Gauld, Alice Poisson, Julie Reversat, Élodie Peyroux, Françoise Houdayer-Robert, Massimiliano Rossi, Gaëtan Lesca, Damien Sanlaville, Caroline Demily · 2021 · Figshare
  60. Epilepsy as a Component of the Dysmorphic–Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants
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  62. Neurodevelopmental alterations in relation to social behavior impairments in a mouse model deficient for Magel2
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