(Q44017821)

29 November 2017

title

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. (English)

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juvenile myoclonic epilepsy

29 November 2017

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17

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29 November 2017

David Curtis

5

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author name string

Nichole L Taske

1

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29 November 2017

Magali P Williamson

2

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29 November 2017

Andrew Makoff

3

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29 November 2017

Louise Bate

4

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29 November 2017

Michael Kerr

6

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29 November 2017

Marianne J Kjeldsen

7

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29 November 2017

Kiang An Pang

8

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29 November 2017

Anders Sundqvist

9

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29 November 2017

Mogens L Friis

10

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29 November 2017

David Chadwick

11

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29 November 2017

Alan Richens

12

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29 November 2017

Athanasios Covanis

13

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29 November 2017

Manuela Santos

14

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29 November 2017

Alexis Arzimanoglou

15

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29 November 2017

Chrysostomos P Panayiotopoulos

16

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29 November 2017

Michele Rees

18

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29 November 2017

R Mark Gardiner

19

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29 November 2017

language of work or name

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1 April 2002

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29 November 2017

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29 November 2017

volume

49

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29 November 2017

issue

2

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29 November 2017

page(s)

157-172

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Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

29 November 2017

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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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7 January 2021

Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy

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

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

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7 January 2021

No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

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7 January 2021

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

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7 January 2021

Segmental duplications: an 'expanding' role in genomic instability and disease

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7 January 2021

The alpha7-nicotinic acetylcholine receptor and the pathology of hippocampal interneurons in schizophrenia

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7 January 2021

Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)

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7 January 2021

Mapping quantitative trait loci for seizure response to a GABAA receptor inverse agonist in mice.

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7 January 2021

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

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7 January 2021

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy

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7 January 2021

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

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Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter

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

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The genetics of multiple sclerosis. A review

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Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains

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7 January 2021

No genetic association of the Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease

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7 January 2021

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay

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7 January 2021

A test for linkage and association in general pedigrees: the pedigree disequilibrium test

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7 January 2021

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

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7 January 2021

No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsy

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7 January 2021

Computer-simulation methods in human linkage analysis

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7 January 2021

Juvenile myoclonic epilepsy: an autosomal recessive disease

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7 January 2021

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

1 reference

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7 January 2021

A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2802%2900027-X

7 January 2021

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2802%2900027-X

7 January 2021

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14

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7 January 2021

Genome search for susceptibility loci of common idiopathic generalised epilepsies

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7 January 2021

Intrachromosomal triplication of 15q11-q13.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy.

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7 January 2021

A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein

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7 January 2021

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

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7 January 2021

Neuronal nicotinic acetylcholine receptors: from the gene to the disease

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7 January 2021

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

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7 January 2021

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7 January 2021

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Identifiers

DOI

1 reference

29 November 2017

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