(Q34145191)

31 July 2017

0 references

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. (English)

1 reference

generalized epilepsy with febrile seizures plus

31 July 2017

main subject

0 references

6

Rouleau GA

1 reference

ORCID Public Data File 2021

31 July 2017

1 reference

author name string

Lopes-Cendes I

1

1 reference

31 July 2017

Scheffer IE

2

1 reference

31 July 2017

Berkovic SF

3

1 reference

31 July 2017

Rousseau M

4

1 reference

31 July 2017

Andermann E

5

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 February 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

66

1 reference

31 July 2017

issue

2

1 reference

31 July 2017

page(s)

698-701

1 reference

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS ) on chromosome 2q24-q33.

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Genetics of the epilepsies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Febrile seizures and generalized epilepsy associated with a mutation in the Na -channel beta1 subunit gene SCN1B.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

A potassium channel mutation in neonatal human 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=1288121

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

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=1288121

The 1993-94 Généthon human genetic linkage map

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the 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=1288121

Easy calculations of lod scores and genetic risks on small computers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288121

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10677328

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Single subunits of the GABAA receptor form ion channels with properties of the native receptor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10677328

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302768

1 reference

release_yzp73z3wibfhvjlbwknujzibgu

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yzp73z3wibfhvjlbwknujzibgu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1288121

1 reference

31 July 2017

1 reference