(Q38113668)

29 August 2017

title

The unexpected role of copy number variations in juvenile myoclonic epilepsy (English)

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29 August 2017

3

Heather C Mefford

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29 August 2017

Ingo Helbig

1

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29 August 2017

Corinna Hartmann

series ordinal

2

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29 August 2017

publication date

1 July 2013

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29 August 2017

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29 August 2017

volume

28 Suppl 1

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29 August 2017

page(s)

S66-8

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Global variation in copy number in the human genome

29 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

Large recurrent microdeletions associated with schizophrenia

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

Rare chromosomal deletions and duplications increase risk of schizophrenia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

Duplication hotspots, rare genomic disorders, and common disease

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

7 January 2021

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Strong association of de novo copy number mutations with autism

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A copy number variation morbidity map of developmental delay

7 January 2021

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

7 January 2021

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

7 January 2021

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

7 January 2021

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

7 January 2021

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Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

7 January 2021

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Penetrance for copy number variants associated with schizophrenia.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

7 January 2021

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2012.07.005

10.1016/J.YEBEH.2012.07.005

7 January 2021

Identifiers

DOI

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29 August 2017

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