15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien +36 more·2009·Nature Genetics
DOI 10.1038/ng.292

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  2. 15q13.3 Microdeletion
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  9. Genetics of the epilepsies: Channelopathies and beyond
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  16. Genetic variations and associated pathophysiology in the management of epilepsy
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  17. Copy Number Variation and Human Health
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  18. Peripheral immune challenges elicit differential up-regulation of hippocampal cytokine and chemokine mRNA expression in a mouse model of the 15q13.3 microdeletion syndrome
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  19. Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy
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  20. Genetik der idiopathischen Epilepsien
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  21. Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication
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  22. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
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  23. CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts
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  24. FunVar: A systematic pipeline to unravel the convergence patterns of genetic variants in ASD, a paradigmatic complex disease
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  26. Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
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  27. Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects
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  35. Genetik epileptischer Enzephalopathien
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  60. Epileptogenesis in idiopathic epilepsy
    Snezana Maljevic, Holger Lerche · 2011 · Cambridge University Press eBooks
  61. An important risk factor in idiopathic generalized epilepsies
    RA Stein · 2009 · Clinical Genetics
  62. Strategies for studying the epilepsy genome
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  63. Genetics of the Idiopathic Generalized Epilepsies
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  64. Review article Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?
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  65. Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
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