(Q34113338)

English

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Infantile convulsions and choreoathetosis

0 references

Choreoathetosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

11

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31 July 2017

author name string

Caraballo R

1

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31 July 2017

Pavek S

2

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31 July 2017

Lemainque A

3

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31 July 2017

Gastaldi M

4

1 reference

Europe PubMed Central

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31 July 2017

Echenne B

5

1 reference

Europe PubMed Central

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31 July 2017

Motte J

6

1 reference

Europe PubMed Central

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31 July 2017

Genton P

7

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31 July 2017

Cersósimo R

8

1 reference

Europe PubMed Central

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31 July 2017

Humbertclaude V

9

1 reference

Europe PubMed Central

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31 July 2017

Fejerman N

10

1 reference

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31 July 2017

Lathrop MG

12

1 reference

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31 July 2017

Rochette J

13

1 reference

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31 July 2017

Szepetowski P

14

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31 July 2017

language of work or name

0 references

publication date

13 February 2001

1 reference

Europe PubMed Central

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31 July 2017

American Journal of Human Genetics

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31 July 2017

68

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31 July 2017

3

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31 July 2017

788-794

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

The genetics of human epilepsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Recent progress in the genetics of human epilepsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Susceptibility genes in human epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Idiopathic epilepsies with a monogenic mode of inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

A potassium channel mutation in neonatal human epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

[Benign infantile familial convulsions]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

5 July 2018

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

28 October 2018

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

28 October 2018

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

28 October 2018

Benign infantile epilepsy with autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274492

28 October 2018

Benign familial infantile epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign infantile familial convulsions

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paroxysmal movement disorders and epilepsy: links across the channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179027

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

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