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Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms.

作者信息

Gan Jing, Cai Qianyun, Galer Peter, Ma Dan, Chen Xiaolu, Huang Jichong, Bao Shan, Luo Rong

机构信息

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu.

Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education, China.

出版信息

Medicine (Baltimore). 2019 Aug;98(32):e16782. doi: 10.1097/MD.0000000000016782.


DOI:10.1097/MD.0000000000016782
PMID:31393404
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6709143/
Abstract

INTRODUCTION: Over the past 10 years, epilepsy genetics has made dramatic progress. This study aimed to analyze the knowledge structure and the advancement of epilepsy genetics over the past decade based on co-word analysis of medical subject headings (MeSH) terms. METHODS: Scientific publications focusing on epilepsy genetics from the PubMed database (January 2009-December 2018) were retrieved. Bibliometric information was analyzed quantitatively using Bibliographic Item Co-Occurrence Matrix Builder (BICOMB) software. A knowledge social network analysis and publication trend based on the high-frequency MeSH terms was built using VOSviewer. RESULTS: According to the search strategy, a total of 5185 papers were included. Among all the extracted MeSH terms, 86 high-frequency MeSH terms were identified. Hot spots were clustered into 5 categories including: "ion channel diseases," "beyond ion channel diseases," "experimental research & epigenetics," "single nucleotide polymorphism & pharmacogenetics," and "genetic techniques". "Epilepsy," "mutation," and "seizures," were located at the center of the knowledge network. "Ion channel diseases" are typically in the most prominent position of epilepsy genetics research. "Beyond ion channel diseases" and "genetic techniques," however, have gradually grown into research cores and trends, such as "intellectual disability," "infantile spasms," "phenotype," "exome," " deoxyribonucleic acid (DNA) copy number variations," and "application of next-generation sequencing." While ion channel genes such as "SCN1A," "KCNQ2," "SCN2A," "SCN8A" accounted for nearly half of epilepsy genes in MeSH terms, a number of additional beyond ion channel genes like "CDKL5," "STXBP1," "PCDH19," "PRRT2," "LGI1," "ALDH7A1," "MECP2," "EPM2A," "ARX," "SLC2A1," and more were becoming increasingly popular. In contrast, gene therapies, treatment outcome, and genotype-phenotype correlations were still in their early stages of research. CONCLUSION: This co-word analysis provides an overview of epilepsy genetics research over the past decade. The 5 research categories display publication hot spots and trends in epilepsy genetics research which could consequently supply some direction for geneticists and epileptologists when launching new projects.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/5cadbeec607f/medi-98-e16782-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/6f29cae4527e/medi-98-e16782-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/8589a3e8e126/medi-98-e16782-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/3447d71126e0/medi-98-e16782-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/9ec61bf803b1/medi-98-e16782-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/c636f4ed6c08/medi-98-e16782-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/5cadbeec607f/medi-98-e16782-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/6f29cae4527e/medi-98-e16782-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/8589a3e8e126/medi-98-e16782-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/3447d71126e0/medi-98-e16782-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/9ec61bf803b1/medi-98-e16782-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/c636f4ed6c08/medi-98-e16782-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/709c/6709143/5cadbeec607f/medi-98-e16782-g010.jpg

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本文引用的文献

[1]
Widespread Genotype-Phenotype Correlations in Intellectual Disability.

Front Psychiatry. 2018-10-29

[2]
Classification, Ontology, and Precision Medicine.

N Engl J Med. 2018-10-11

[3]
Voltage-Dependent Calcium Channels, Calcium Binding Proteins, and Their Interaction in the Pathological Process of Epilepsy.

Int J Mol Sci. 2018-9-12

[4]
Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future.

Front Mol Neurosci. 2018-8-29

[5]
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Commun Biol. 2018

[6]
Epilepsy genetics: Current knowledge, applications, and future directions.

Clin Genet. 2018-8-2

[7]
The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs.

Seizure. 2018-6-6

[8]
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Epilepsy Res. 2018-8

[9]
Genetic generalized epilepsies.

Epilepsia. 2018-5-9

[10]
Dysregulated long non-coding RNAs in the temporal lobe epilepsy mouse model.

Seizure. 2018-4-13

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