Acknowledgements & References


  • Amanda Bergner, MS, CGC
    Certified Genetic Counselor
    Senior Neurology Product Manager, Ambry Genetics
  • Deepti Babu, MS, CGC
    Certified Genetic Counselor
    Clinical Content Editor, Ambry Genetics
  • Jackie Connor, BA
    Marketing Clinical Coordinator, Ambry Genetics
  • Devon Lamb Thrush, MS, CGC
    Certified Genetic Counselor
    Ambry Genetics
  • Michael Squier
    Creative Director, Ambry Genetics
  • Ted Hanik
    Post Production Supervisor, Ambry Genetics
  • Caleb Remington
    Lead Software Developer, Ambry Genetics
  • Joe Bartfay
    Senior Software Engineer, Ambry Genetics
  • Jamie L'Heureux, MS, CGC
    Certified Genetic Counselor
    Progeny Genetics
  • Michael Brammer
    CEO, Progeny Genetics
  • Humberto Huerta
    Director of Marketing, Ambry Genetics
  • Gretchen Enright
    Director of Compliance, Ambry Genetics
  • Melissa Yoon
    General Counsel, Ambry Genetics
  • Charles Dunlop
    CEO, Ambry Genetics

Complete References by Section

Know the Basics

National Institute of Neurological Disorders and Stroke. Available at

World Health Organization Neurological Disorders Report. Available at

Genetic Information Nondiscrimination Act. Your GINA Resource. Available at

About Epilepsy

  1. Institute of Medicine of the National Academies. England MJ, Liverman CT, Schultz AM, Strawbridge, LM (Eds.). Committee on the Public Health Dimensions of the Epilepsies; Board on Health Sciences Policy; Institute of Medicine. Epilepsy Across the Spectrum: Promoting Health and Understanding. The National Academies Press. March 20, 2012.
  2. U.S. Census Bureau, Population Division. Annual Estimates of the Resident Population by Sex, Age, Race, and Hispanic Origin for the United States, States, and Counties: April 1, 2010, to July 1, 2013. [Internet]. Release Date: June 2014.
  3. Russ SA, et al. A national profile of childhood epilepsy and seizure disorder. Pediatrics. 2012;129:256–264.
  4. Thomas RH and Berkovic SF. The hidden genetics of epilepsy – a clinically important new paradigm. Nat Rev Neurol. 2014 May;10(5):283-92.
  5. Hani AJ, et al. Genetics of pediatric epilepsy. Pediatr Clin North Am. 2015;62(3): 703-722. 
  6. Ottman R, et al. Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia. 2010; 51(4):655-670.

About Neurodevelopmental Disorders

  1. Larson SL, et al. Prevalence of mental retardation and/or developmental disabilities: Analysis of the 1994/1995 NHIS-D. MR/DD Data Brief. Minneapolis, MN: Institute on Community Integration, University of Minnesota. 2000.
  2. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Washington, DC. 2013.
  3. Miller DT, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86(5):749-764.
  4. Michelson DJ, et al. Evidence report: Genetics and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25;77(17):1629-1635.
  5. Moeschler JB, et al. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):903-918.
  6. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorder-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. Mar 30 2012. 61(3):1-22.
  7. Schaefer GB, et al. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May;15(5):399-407.