Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.
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.
Center for Translational Research, Greenwood Genetic Center & Department of Neurology, Boston Children's Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. wkaufmann@ggc.org.
Walter E
WE
Kaufmann
D002648:Child; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D009462:Neurology / Q000193:education*; D010372:Pediatrics / Q000193:education*
Disorder-specific clinic; Genetic diagnosis; Neurogenetics; Pediatric neurology; Undiagnosed disease