High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

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Last Posted: Aug 24, 2017

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• High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders  
  MB Stosser et al, Genetics in Medicine, August 24, 2017
• 5 Things You Should Know About Epilepsy 
• Genetic Basis of Sudden Unexpected Death in Epilepsy.  
  Bagnall Richard D et al. Frontiers in neurology 2017 8348
• Treatable Genetic Metabolic Epilepsies.  
  Assi Lama et al. Current treatment options in neurology 2017 Sep (9) 30
• Study: Most newborns with epilepsy benefit from genetic testing  
  Science Mag, August 3, 2017
• Early-Life Epilepsies and the Emerging Role of Genetic Testing  
  Berg Anne T et al. JAMA pediatrics 2017 Jul
• The role of genetic testing in epilepsy diagnosis and management.  
  Weber Yvonne G et al. Expert review of molecular diagnostics 2017 Aug 17(8) 739-750
• Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.  
  Glauser Tracy A et al. Annals of neurology 2017 Mar 81(3) 444-453
• Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.  
  Kutscher Eric J et al. Pediatric neurology 2017 Apr
• Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.  
  Jaitovich Groisman Iris et al. European journal of human genetics : EJHG 2017 May
• Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.  
  Fry Andrew E et al. BMC medical genetics 2016 Apr 17(1) 34
• The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing.  
  Hurlimann Thierry et al. BMC medical ethics 2017 Apr 18(1) 28
• Study finds genetic basis for drug response in childhood absence epilepsy  
  NIH Press Release, April 11, 2017
• What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?  
  Koeleman Bobby P C et al. Neuroscience letters 2017 Mar
• Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.  
  Perucca Piero et al. Epilepsy research 2017 Feb 1311-8
• Epilepsy-associated genes.  
  Wang Jie et al. Seizure 2017 Jan 4411-20

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