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.
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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
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A special thank you to Dr. John Brust for taking the time to review this manuscript.
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This work was supported by grants from the National Institutes of Health (U54HD061222), Centers for Disease Control and Prevention (U01DD000231, U19DD000753), and Rettsyndrome.org.
Conflict of Interest
Walter E. Kaufmann has received consultancy fees from Cydan, Astra Zeneca, Roche, Neuren, Edison, Newron, EryDel, Marinus, and GW Pharmaceuticals. He has also received research support from Seaside Therapeutics, Novartis, Ipsen, and Eloxx.
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Kaufmann, W.E. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. Curr Neurol Neurosci Rep 16, 103 (2016). https://doi.org/10.1007/s11910-016-0703-0
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DOI: https://doi.org/10.1007/s11910-016-0703-0