DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. (Q36166064)

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14 January 2020

title

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

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14 January 2020

3

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14 January 2020

Marco Tulio Medina

5

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14 January 2020

Iris E Martínez-Juárez

6

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14 January 2020

Toshimitsu Suzuki

7

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14 January 2020

Aurelio Jara-Prado

15

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14 January 2020

Kazuhiro Yamakawa

16

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Antonio V Delgado-Escueta

14 January 2020

17

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author name string

Dongsheng Bai

1

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14 January 2020

Julia N Bailey

2

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14 January 2020

María E Alonso

4

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14 January 2020

Jesús Machado-Salas

8

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14 January 2020

Ricardo Ramos-Ramírez

9

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14 January 2020

Miyabi Tanaka

10

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14 January 2020

Ramón H Castro Ortega

11

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14 January 2020

Minerva López-Ruiz

12

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14 January 2020

Astrid Rasmussen

13

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14 January 2020

Adriana Ochoa

14

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14 January 2020

publication date

1 May 2009

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14 January 2020

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14 January 2020

volume

50

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14 January 2020

issue

5

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14 January 2020

page(s)

1184-1190

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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Mutations in EFHC1 cause juvenile myoclonic epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Family-based tests of association in the presence of linkage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Implementing a unified approach to family-based tests of association.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Exploration of the genetic architecture of idiopathic generalized epilepsies.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607268

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18823326

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1528-1167.2008.01762.X

1 reference

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14 January 2020

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14 January 2020

PubMed publication ID

18823326

1 reference