Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century

Walter E. Kaufmann

Research output: Contribution to journalReview articlepeer-review

Abstract

Increasing knowledge on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. I reviewed here the history of pediatric neurologic disorder classification and the role of genetics in the process. I also discussed the concept of clinical neurogenetics, with its role in clinical practice, education, and research. Finally, I propose a flexible model for clinical neurogenetics in child neurology in the twenty-first century. In combination with disorder-specific clinical programs, clinical neurogenetics can become a home for complex clinical issues, repository of genetic diagnostic advances, educational resource, and research engine in child neurology.

Original languageEnglish (US)
Article number103
JournalCurrent neurology and neuroscience reports
Volume16
Issue number12
DOIs
StatePublished - Dec 1 2016
Externally publishedYes

Keywords

  • Disorder-specific clinic
  • Genetic diagnosis
  • Neurogenetics
  • Pediatric neurology
  • Undiagnosed disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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