Genetically complex epilepsies, copy number variants and syndrome constellations (Q34334100)

1 August 2017

title

Genetically complex epilepsies, copy number variants and syndrome constellations (English)

1 reference

1 August 2017

Heather C Mefford

1 reference

1 August 2017

John C. Mulley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

28 July 2024

language of work or name

1 reference

5 October 2010

1 reference

full work available at URL

1 August 2017

https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/gm192

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20923578/?tool=EBI

28 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20923578/pdf/?tool=EBI

28 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

https://europepmc.org/articles/PMC2988446

28 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

https://europepmc.org/articles/PMC2988446?pdf=render

28 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20923578

28 July 2024

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

1 August 2017

cites work

1 reference

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Pooled association tests for rare variants in exon-resequencing studies

6 July 2018

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

6 July 2018

1 reference

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Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

6 July 2018

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Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come

6 July 2018

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6 July 2018

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Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility

6 July 2018

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6 July 2018

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Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

6 July 2018

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

6 July 2018

1 reference

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Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Finding the missing heritability of complex diseases

6 July 2018

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Origins and functional impact of copy number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Population analysis of large copy number variants and hotspots of human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Personal genomes: The case of the missing heritability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Mechanisms of human inherited epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Navigating the channels and beyond: unravelling the genetics of the epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

The impact of next-generation sequencing technology on genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

A polygenic heterogeneity model for common epilepsies with complex genetics.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Channelopathies in idiopathic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Analysis of the DNA sequence and duplication history of human chromosome 15

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Susceptibility genes for complex epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Epilepsy in twins: insights from unique historical data of William Lennox

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

The allelic architecture of human disease genes: common disease-common variant... or not?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Recent segmental duplications in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Seizure risk in offspring of parents with generalized versus partial epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Exploration of the genetic architecture of idiopathic generalized epilepsies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Epilepsies in twins: genetics of the major epilepsy syndromes.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Great expectations: using massively parallel sequencing to solve inherited disorders

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2988446

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20923578

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20923578

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20923578

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/GM192

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference