Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/98546
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Type: Journal article
Title: Genetics of hereditary neurological disorders in children
Author: Huang, Y.
Yu, S.
Wu, Z.
Tang, B.
Citation: Translational pediatrics, 2014; 3(2):108-119
Publisher: AME Publishing
Issue Date: 2014
ISSN: 2224-4344
2224-4344
Statement of
Responsibility: 
Yue Huang, Sui Yu, Zhanhe Wu, Beisha Tang
Abstract: Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.
Keywords: Hereditary neurological disorders (HNDs); genetics; genetic testing; paediatrics
Rights: © Translational Pediatrics. All rights reserved.
RMID: 0030043470
DOI: 10.3978/j.issn.2224-4336.2014.03.04
Grant ID: http://purl.org/au-research/grants/nhmrc/1037746
Appears in Collections:Paediatrics publications

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