Evidence map›Paper›PMID 26835329›Full record

ReviewTranslational pediatrics2014

Genetics of hereditary neurological disorders in children.

Yue Huang, Sui Yu, Zhanhe Wu, Beisha Tang

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Translational pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.7field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 25 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 2 countries.

Yue Huang1 Neuroscience Research Australia & the University of New South Wales, NSW, 2031, Australia ; 2 Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia ; 3 Cytogenetics Department, Western Sydney Genetics Program, Children's Hospital at Westmead, NSW, 2145, Australia ; 4 Department of Neurology, Xiangya Hospital, Central South University & National Laboratory of Medical Genetics of China, Changsha 410000, China.
Sui Yu1 Neuroscience Research Australia & the University of New South Wales, NSW, 2031, Australia ; 2 Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia ; 3 Cytogenetics Department, Western Sydney Genetics Program, Children's Hospital at Westmead, NSW, 2145, Australia ; 4 Department of Neurology, Xiangya Hospital, Central South University & National Laboratory of Medical Genetics of China, Changsha 410000, China.
Zhanhe Wu1 Neuroscience Research Australia & the University of New South Wales, NSW, 2031, Australia ; 2 Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia ; 3 Cytogenetics Department, Western Sydney Genetics Program, Children's Hospital at Westmead, NSW, 2145, Australia ; 4 Department of Neurology, Xiangya Hospital, Central South University & National Laboratory of Medical Genetics of China, Changsha 410000, China.
Beisha Tang1 Neuroscience Research Australia & the University of New South Wales, NSW, 2031, Australia ; 2 Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia ; 3 Cytogenetics Department, Western Sydney Genetics Program, Children's Hospital at Westmead, NSW, 2145, Australia ; 4 Department of Neurology, Xiangya Hospital, Central South University & National Laboratory of Medical Genetics of China, Changsha 410000, China.
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

geneticsgenetic testingHereditary neurological disorders (HNDs)paediatrics

Identifiers

PMID26835329
PMCPMC4729102
OpenAlexW2176229142

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.