Epilepsy and the new cytogenetics (Q34814385)

4 August 2017

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title

Epilepsy and the new cytogenetics (English)

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4 August 2017

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2

Heather C Mefford

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4 August 2017

John C Mulley

1

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4 August 2017

26 January 2011

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4 August 2017

1 reference

4 August 2017

52

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4 August 2017

3

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4 August 2017

423-432

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A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Genetically complex epilepsies, copy number variants and syndrome constellations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Chromosomal microarray interpretation: what is a child neurologist to do?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

A catalog of SCN1A variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Chromosomal disorders associated with epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Recent segmental duplications in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Early identification of refractory epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

A potassium channel mutation in neonatal human epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

8 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Private inherited microdeletion/microduplications: implications in clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Penetrance for copy number variants associated with schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Duplication 16p11.2 in a child with infantile seizure disorder.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3079368

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02932.X

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication

1 reference

12 December 2020

"New microdeletion syndromes: complex, but no new paradigms"

1 reference

12 December 2020

10.1111/J.1528-1167.2010.02932.X

Identifiers

DOI

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4 August 2017

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4 August 2017

1 reference

PubMed ID

21269290