Literature DB >> 27815692

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

Walter E Kaufmann1.   

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.

Entities:  

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

Mesh:

Year:  2016        PMID: 27815692     DOI: 10.1007/s11910-016-0703-0

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  19 in total

1.  The medical home.

Authors: 
Journal:  Pediatrics       Date:  2002-07       Impact factor: 7.124

2.  Clinical neurogenetics. A survey of the relationship of medical genetics to clinical neurology.

Authors:  T D Bird; J G Hall
Journal:  Neurology       Date:  1977-11       Impact factor: 9.910

3.  The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Authors:  Daniel C Tarquinio; Wei Hou; Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; Kathleen J Motil; Steven A Skinner; Hye-Seung Lee; Alan K Percy
Journal:  Pediatr Neurol       Date:  2015-06-26       Impact factor: 3.372

4.  Health supervision for children with Down syndrome.

Authors:  Marilyn J Bull
Journal:  Pediatrics       Date:  2011-07-25       Impact factor: 7.124

Review 5.  Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.

Authors:  Christina Gross; Anne Hoffmann; Gary J Bassell; Elizabeth M Berry-Kravis
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

6.  Constipation in children with neurofibromatosis type 1.

Authors:  Cecilie E Pedersen; Klaus Krogh; Charlotte Siggaard; Iben M Joensson; Annette Haagerup
Journal:  J Pediatr Gastroenterol Nutr       Date:  2013-02       Impact factor: 2.839

7.  The neurologist's role in supporting transition to adult health care: A consensus statement.

Authors:  Lawrence W Brown; Peter Camfield; Melissa Capers; Greg Cascino; Mary Ciccarelli; Claudio M de Gusmao; Stephen M Downs; Annette Majnemer; Amy Brin Miller; Christina SanInocencio; Rebecca Schultz; Anne Tilton; Annick Winokur; Mary Zupanc
Journal:  Neurology       Date:  2016-07-27       Impact factor: 9.910

Review 8.  Health supervision for children with neurofibromatosis.

Authors:  Joseph H Hersh
Journal:  Pediatrics       Date:  2008-03       Impact factor: 7.124

9.  Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Authors:  Samin A Sajan; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Daniel G Glaze; Walter E Kaufmann; Steven A Skinner; Fran Annese; Michael J Friez; Jane Lane; Alan K Percy; Jeffrey L Neul
Journal:  Genet Med       Date:  2016-05-12       Impact factor: 8.822

10.  Health-related quality of life in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood.

Authors:  Paola R Silvestri; Flavia Chiarotti; Valentina Baglioni; Valeria Neri; Francesco Cardona; Andrea E Cavanna
Journal:  Neurol Sci       Date:  2016-07-25       Impact factor: 3.307

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