Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. (Q34146391)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

familial partial epilepsy

2 November 2019

main subject

1 reference

epilepsy, familial focal, with variable foci

inferred from title

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Samuel Berkovic

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

2

M Labuda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

L Xiong

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

D S Li

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T J Hudson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R Desbiens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

G Patry

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S Verret

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P Langevin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S Mercho

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M H Seni

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

F Dubeau

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

F Andermann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Andermann

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Pandolfo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

1698-1710

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

A third member of the synapsin gene family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Genetics of human partial epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Epilepsies with single gene inheritance.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Essential functions of synapsins I and II in synaptic vesicle regulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Localization of a gene for partial epilepsy to chromosome 10q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Effects of misspecifying genetic parameters in lod score analysis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Benign childhood epilepsy with occipital paroxysms: a 15-year prospective study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

The power to detect linkage in complex disease by means of simple LOD-score analyses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Lods, wrods, and mods: the interpretation of lod scores calculated under different models.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288381

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

28 October 2018

1 reference

12 December 2020

Parameters affecting the yield of DNA from human blood

1 reference

12 December 2020

Linkage analysis assuming a single-locus mode of inheritance for traits determined by two loci: inferring mode of inheritance and estimating penetrance

1 reference

12 December 2020

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

1 reference

12 December 2020

Familial temporal lobe epilepsy: a common disorder identified in twins

1 reference

12 December 2020

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/302649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

release_s6tn6nqwxzcmvelkzo6relr2ry

2 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s6tn6nqwxzcmvelkzo6relr2ry

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577924%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

10577924

1 reference