(Q73592109)

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Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies

scientific article published on 01 July 1997

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9259383%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9259383%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

O Steinlein

1

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5 November 2019

T Sander

2

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5 November 2019

J Stoodt

3

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5 November 2019

R Kretz

4

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5 November 2019

D Janz

5

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5 November 2019

P Propping

6

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5 November 2019

publication date

1 July 1997

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5 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

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5 November 2019

74

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5 November 2019

4

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5 November 2019

445-449

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5 November 2019

Concepts of absence epilepsies: discrete syndromes or biological continuum?

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Progress in mapping human epilepsy genes

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

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21 January 2018

How sensitive is PCR-SSCP?

1 reference

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21 January 2018

Genetic dissection of complex traits

1 reference

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21 January 2018

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

1 reference

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21 January 2018

Primary structure of α-subunit precursor of Torpedo californica acetylcholine receptor deduced from cDNA sequence

1 reference

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21 January 2018

Association versus linkage studies in psychosis genetics

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970725%2974%3A4%3C445%3A%3AAID-AJMG18%3E3.0.CO%3B2-I

21 January 2018

Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct?

1 reference

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21 January 2018

Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

1 reference

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21 January 2018

The phenotypic spectrum related to the human epilepsy susceptibility gene “EJM1”

1 reference

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21 January 2018

Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970725%2974%3A4%3C445%3A%3AAID-AJMG18%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970725%2974%3A4%3C445%3A%3AAID-AJMG18%3E3.0.CO%3B2-I

21 January 2018

Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor ?4 subunit gene (CHRNA4)

1 reference

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21 January 2018

Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity

1 reference

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21 January 2018

Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3

1 reference

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21 January 2018

Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)

1 reference

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21 January 2018

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

1 reference

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21 January 2018

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

1 reference

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21 January 2018

On estimating the relation between blood group and disease

1 reference

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21 January 2018

Mapping of genes predisposing to idiopathic generalized epilepsy

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19970725)74:4<445::AID-AJMG18>3.0.CO;2-I

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9259383%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9259383%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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