Method description: The genes in this list were originally identified in 2014 through searching databases available in the public domain [The International Standards for Cytogenomic Arrays Consortium database (www.iscaconsortium.org), which generated this information using NCBI’s database of genomic structural variation (dbVar, www.ncbi.nlm.nih.gov/dbvar/); The Human Gene Compendium Gene Cards (http://www.genecards.org/)] as well genes of interest to neurologists at U.T. Southwestern. This list was initially curated from approximately 5000 to 1200 genes following review and annotation utilizing two other databases, OMIM and HUGO. The gene list was subsequently revised in 2019 based on the current OMIM citations and HUGO designations, the National Institute of Health (NIH) Genetics Home Reference, and Human Phenotype Ontology, all of which are in the public domain.

Original languageEnglish (US)
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 2
Number of pages91
ISBN (Electronic)9780128138663
StatePublished - Jan 1 2020


  • Ataxia genes
  • Epilepsy genes
  • Hereditary neurologic diseases
  • Muscular dystrophy genes
  • Neurologic genes

ASJC Scopus subject areas

  • General Medicine


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