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

被引:4
|
作者
Kaufmann, Walter E. [1 ,2 ]
机构
[1] Greenwood Genet Ctr, Ctr Translat Res, 113 Gregor Mendel Circle, Greenwood, SC 29646 USA
[2] Boston Childrens Ctr, Dept Neurol, 113 Gregor Mendel Circle, Greenwood, SC 29646 USA
基金
美国国家卫生研究院;
关键词
Neurogenetics; Genetic diagnosis; Disorder-specific clinic; Undiagnosed disease; Pediatric neurology; REPORT-HEALTH SUPERVISION; RETT-SYNDROME; INTELLECTUAL DISABILITY;
D O I
10.1007/s11910-016-0703-0
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页数:5
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