(Q24682979)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Advances in genetics of juvenile myoclonic epilepsies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

Antonio V Delgado-Escueta

31 December 2019

author

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Antonio V Delgado-Escueta

series ordinal

1

0 references

language of work or name

English

0 references

publication date

1 May 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

61-67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

31 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Association of the connexin36 gene with juvenile myoclonic epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations in EFHC1 cause juvenile myoclonic epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Exploration of the genetic architecture of idiopathic generalized epilepsies.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Association of BRD2 polymorphisms with photoparoxysmal response.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

New neurons follow the flow of cerebrospinal fluid in the adult brain

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Prevalence of epilepsy in rural Bolivia: a door-to-door survey

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Juvenile myoclonic epilepsy: a 5-year prospective study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Juvenile myoclonic epilepsy of Janz.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1874323

Transferability of tag SNPs in genetic association studies in multiple populations

28 November 2018

1 reference

12 December 2020

A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26

1 reference

12 December 2020

Rib72, a conserved protein associated with the ribbon compartment of flagellar A-microtubules and potentially involved in the linkage between outer doublet microtubules

1 reference

12 December 2020

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

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

Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI

1 reference

12 December 2020

Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy

1 reference

12 December 2020

Is HLA-DRW13 (W6) associated with juvenile myoclonic epilepsy in Arab patients?

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

Topiramate in the long-term management of refractory epilepsy. Topiramate YOL Study Group.

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1535-7511.2007.00171.X

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1111/J.1535-7511.2007.00171.X

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17520076%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

17520076

2 references