Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies. (Q33821815)

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23 March 2020

review article

2 references

22 June 2022

1 reference

PubMed publication ID

28636645

title

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies (English)

1 reference

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juvenile myoclonic epilepsy

23 March 2020

main subject

1 reference

genetic association study

19 September 2019

1 reference

19 September 2019

10

1 reference

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23 March 2020

author name string

Bruna Priscila Dos Santos

1

1 reference

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23 March 2020

Chiara Rachel Maciel Marinho

2

1 reference

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23 March 2020

Thalita Ewellyn Batista Sales Marques

3

1 reference

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23 March 2020

Layanne Kelly Gomes Angelo

4

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23 March 2020

Maísa Vieira da Silva Malta

5

1 reference

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23 March 2020

Marcelo Duzzioni

6

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23 March 2020

Olagide Wagner de Castro

7

1 reference

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23 March 2020

João Pereira Leite

8

1 reference

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23 March 2020

Fabiano Timbó Barbosa

9

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23 March 2020

language of work or name

English

0 references

publication date

21 June 2017

5 references

14 March 2019

25 April 2019

19 September 2019

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23 March 2020

22 June 2022

5 references

14 March 2019

25 April 2019

19 September 2019

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23 March 2020

22 June 2022

12

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23 March 2020

issue

6

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23 March 2020

page(s)

e0179629

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Creative Commons Attribution 4.0 International

23 March 2020

copyright license

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14 March 2019

25 April 2019

19 September 2019

on focus list of Wikimedia project

22 June 2022

copyright status

copyrighted

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cites work

Juvenile myoclonic epilepsy: Challenges on its 60th anniversary

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Advancing epilepsy genetics in the genomic era

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

MDM2 SNP309 polymorphism contributes to endometrial cancer susceptibility: evidence from a meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Juvenile myoclonic epilepsy: Clinical characteristics, standard and quantitative electroencephalography analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Clinical aspects of juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

The unexpected role of copy number variations in juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genome wide association studies (GWAS) and common forms of human epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

The quest for juvenile myoclonic epilepsy genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

The history of juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Epidemiology of juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Glutathione S-transferase polymorphisms (GSTM1, GSTT1 and GSTP1) and their susceptibility to renal cell carcinoma: an evidence-based meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Gene polymorphisms and their role in epilepsy treatment and prognosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Expression of the circadian clock gene Period2 in the hippocampus: possible implications for synaptic plasticity and learned behaviour

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Evaluating candidate genes in common epilepsies and the nature of evidence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

The state of the art in the genetic analysis of the epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Idiopathic generalized epilepsies: a review and modern approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genetic association studies in epilepsy: "the truth is out there".

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Assessing the impact of population stratification on genetic association studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Problems of reporting genetic associations with complex outcomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Interpretation of genetic association studies in complex disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Population stratification and spurious allelic association

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

The allelic architecture of human disease genes: common disease-common variant... or not?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Replication validity of genetic association studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Detecting association in a case-control study while correcting for population stratification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genetic dissection of complex traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Juvenile myoclonic epilepsy of Janz.

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Antiepileptic drugs withdrawal in patients with idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Advances in genetics of juvenile myoclonic epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

The complex interplay among factors that influence allelic association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Association of the connexin36 gene with juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Basic statistical analysis in genetic case-control studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Using linkage genome scans to improve power of association in genome scans

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Association of BRD2 polymorphisms with photoparoxysmal response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Sharp wave-like activity in the hippocampus in vitro in mice lacking the gap junction protein connexin 36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Connexin36 knockout mice display increased sensitivity to pentylenetetrazol-induced seizure-like behaviors

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Roles of metabotropic glutamate receptor subtypes in modulation of pentylenetetrazole-induced seizure activity in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Positive allosteric modulation of metabotropic glutamate 4 (mGlu4) receptors enhances spontaneous and evoked absence seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Lack of Association Between Juvenile Myoclonic Epilepsy and HLA-DR13

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Novel Susceptibility Loci were Found in Chinese Genetic Generalized Epileptic Patients by Genome-wide Association Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Genetic factors in seizures: a population-based study of 47,626 US, Norwegian and Danish twin pairs

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5479548

Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis

29 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Association studies and functional validation or functional validation alone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0179629

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies

21 January 2018

1 reference

12 December 2020

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy

1 reference

12 December 2020

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

1 reference

12 December 2020

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

1 reference

12 December 2020

Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

1 reference

12 December 2020

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

1 reference

12 December 2020

Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy

1 reference

12 December 2020

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

12 December 2020

Epigenetics and epilepsy

1 reference

12 December 2020

Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population

1 reference

12 December 2020

Expression of connexin genes in hippocampus of kainate-treated and kindled rats under conditions of experimental epilepsy

1 reference

12 December 2020

Juvenile myoclonic epilepsy and human leukocyte antigens

1 reference

12 December 2020

Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescent-onset generalized epilepsy

1 reference

12 December 2020

[Genes and epilepsy I: epilepsy and genetic alterations]

1 reference

12 December 2020

Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes

1 reference

12 December 2020

Epilepsy as a spectrum disorder: Implications from novel clinical and basic neuroscience

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0179629

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28636645%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28636645%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

PubMed publication ID

28636645

1 reference