EpilepsyGene: a genetic resource for genes and mutations related to epilepsy. (Q35254765)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324312 AND SRC:MED&resulttype=core&format=json

21 February 2020

title

EpilepsyGene: a genetic resource for genes and mutations related to epilepsy (English)

1 reference

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21 February 2020

6

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21 February 2020

Zhongsheng Sun

7

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21 February 2020

author name string

Xia Ran

1

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21 February 2020

Jinchen Li

2

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21 February 2020

Qianzhi Shao

3

1 reference

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21 February 2020

Huiqian Chen

4

1 reference

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21 February 2020

Zhongdong Lin

5

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21 February 2020

Jinyu Wu

8

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21 February 2020

language of work or name

English

0 references

publication date

16 October 2014

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21 February 2020

published in

Nucleic Acids Research

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21 February 2020

volume

43

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21 February 2020

issue

Database issue

1 reference

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21 February 2020

page(s)

D893-9

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Creative Commons Attribution-NonCommercial 4.0 International

21 February 2020

copyright license

start time

9 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Targeting ion transport in cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Epilepsy in 2013: progress across the spectrum of epilepsy research

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Data, information, knowledge and principle: back to metabolism in KEGG

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Genetics of the epilepsies: where are we and where are we going?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Gene Ontology annotations and resources

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

An integrated map of genetic variation from 1,092 human genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Incidence and prevalence of epilepsy among older U.S. Medicare beneficiaries

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

AutismKB: an evidence-based knowledgebase of autism genetics.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

WikiPathways: building research communities on biological pathways

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

ADHDgene: a genetic database for attention deficit hyperactivity disorder

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

A high-resolution map of human evolutionary constraint using 29 mammals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Predicting the functional impact of protein mutations: application to cancer genomics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Identifying a high fraction of the human genome to be under selective constraint using GERP .

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Pathway Commons, a web resource for biological pathway data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

MutationTaster evaluates disease-causing potential of sequence alterations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

SZGR: a comprehensive schizophrenia gene resource

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Identification of deleterious mutations within three human genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Schizophrenia and epilepsy: is there a shared susceptibility?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

WGCNA: an R package for weighted correlation network analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

GAPscreener: an automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

27 July 2018

From molecule to malady

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Autistic and dysphasic children. II: Epilepsy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384015

Guidelines for Epidemiologic Studies on Epilepsy. Commission on Epidemiology and Prognosis, International League Against Epilepsy

27 July 2018

1 reference

Convulsing toward the pathophysiology of autism

21 January 2018

1 reference

The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996-2008.

21 January 2018

1 reference

An enhanced MITOMAP with a global mtDNA mutational phylogeny

21 January 2018

1 reference

WebGestalt: an integrated system for exploring gene sets in various biological contexts

21 January 2018

1 reference

Blood microRNA changes in depressed patients during antidepressant treatment.

21 January 2018

1 reference

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

21 January 2018

1 reference

CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.

21 January 2018

1 reference

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures

21 January 2018

1 reference

New Methods for Detecting Lineage-Specific Selection

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1093/NAR/GKU943

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324312 AND SRC:MED&resulttype=core&format=json

21 February 2020

DBLP publication ID

journals/nar/RanLSCLSW15

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324312 AND SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

25324312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324312 AND SRC:MED&resulttype=core&format=json