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

Curr Neurol Neurosci Rep. 2016 Dec;16(12):103. doi: 10.1007/s11910-016-0703-0.

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.

Keywords: Disorder-specific clinic; Genetic diagnosis; Neurogenetics; Pediatric neurology; Undiagnosed disease.

Publication types

  • Review

MeSH terms

  • Child
  • Humans
  • Nervous System Diseases / genetics*
  • Neurology / education*
  • Pediatrics / education*