(Q37149241)

18 August 2017

1 reference

title

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. (English)

1 reference

18 August 2017

John C Mulley

1

1 reference

PMCID

2664944

18 August 2017

Leanne M Dibbens

series ordinal

2

1 reference

18 August 2017

25 March 2009

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18 August 2017

1 reference

18 August 2017

1

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18 August 2017

3

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18 August 2017

33

1 reference

https://scigraph.springernature.com/pub.10.1186/gm33

18 August 2017

0 references

cites work

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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

6 September 2017

1 reference

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

Emerging themes and new challenges in defining the role of structural variation in human disease

6 September 2017

1 reference

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

6 September 2017

1 reference

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Large recurrent microdeletions associated with schizophrenia

6 September 2017

1 reference

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Rare chromosomal deletions and duplications increase risk of schizophrenia

6 September 2017

1 reference

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

6 September 2017

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Splenomegaly and modified erythropoiesis in KLF13-/- mice

6 September 2017

1 reference

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

A polygenic heterogeneity model for common epilepsies with complex genetics.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

Channelopathies in idiopathic epilepsy

6 September 2017

1 reference

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Strong association of de novo copy number mutations with autism

6 September 2017

1 reference

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

6 September 2017

1 reference

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Performance deficit of alpha7 nicotinic receptor knockout mice in a delayed matching-to-place task suggests a mild impairment of working/episodic-like memory

6 September 2017

1 reference

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Susceptibility genes for complex epilepsy

6 September 2017

1 reference

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Genetic association studies in epilepsy: "the truth is out there".

6 September 2017

1 reference

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Unraveling monogenic channelopathies and their implications for complex polygenic disease

6 September 2017

1 reference

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6 September 2017

1 reference

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A potassium channel mutation in neonatal human epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664944

Partial epilepsy: chinks in the armour

3 September 2018

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Réseau Observatoire Longitudinal de l' Epilepsie

1 reference

12 December 2020

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Identifiers

DOI

10.1186/GM33

1 reference

PMCID

2664944

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

1 reference

PMCID

2664944