Copy number variants in a hospital-based cohort of children with epilepsy

D.R.M. Vlaskamp; P.M.C. Callenbach; P. Rump; C.M.A. Van Ravenswaaij-Arts; O.F. Brouwer

doi:10.1111/epi.13241

Copy number variants in a hospital-based cohort of children with epilepsy

D.R.M. Vlaskamp, P.M.C. Callenbach, P. Rump, C.M.A. Van Ravenswaaij-Arts, O.F. Brouwer

Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Research output: Contribution to conference › Abstract › Academic

Abstract

Purpose: Copy number variants (CVNs), detected with chromosomal microarray, have been shown to cause or predispose to epilepsy. We aimed to evaluate the diagnostic yield of microarray in a large cohort of children with epilepsy and to identify novel genes and regions for epilepsy. Method: From a single university hospital-based cohort of children below 18 years who were treated for epilepsy, diagnosed after 2000, we included all children who had undergone microarray before May 2014. Oligonucleotide array Comparative Genome Hybridization or Single Nucleotide Polymorphisms array was performed to report CNVs of at least 4 consecutive probes on chromosome 1-22 or X. CNVs that were found in

Original language	English
Pages	222
Number of pages	1
DOIs	https://doi.org/10.1111/epi.13241
Publication status	Published - 1-Feb-2015
Event	31st International Epilepsy Congress - Istanbul, Turkey Duration: 5-Sept-2015 → 9-Sept-2015

Conference

Conference	31st International Epilepsy Congress
Country/Territory	Turkey
City	Istanbul
Period	05/09/2015 → 09/09/2015

Keywords

protein
epilepsy
human
child
hospital
gene
pathogenicity
focal epilepsy
diagnostic value
comparative genomic hybridization
patient
single nucleotide polymorphism
DNA microarray
university hospital
chromosome 1
intellectual impairment
American

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AU - Vlaskamp, D.R.M.

AU - Callenbach, P.M.C.

AU - Rump, P.

AU - Van Ravenswaaij-Arts, C.M.A.

AU - Brouwer, O.F.

PY - 2015/2/1

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N2 - Purpose: Copy number variants (CVNs), detected with chromosomal microarray, have been shown to cause or predispose to epilepsy. We aimed to evaluate the diagnostic yield of microarray in a large cohort of children with epilepsy and to identify novel genes and regions for epilepsy. Method: From a single university hospital-based cohort of children below 18 years who were treated for epilepsy, diagnosed after 2000, we included all children who had undergone microarray before May 2014. Oligonucleotide array Comparative Genome Hybridization or Single Nucleotide Polymorphisms array was performed to report CNVs of at least 4 consecutive probes on chromosome 1-22 or X. CNVs that were found in

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KW - protein

KW - epilepsy

KW - human

KW - child

KW - hospital

KW - gene

KW - pathogenicity

KW - focal epilepsy

KW - diagnostic value

KW - comparative genomic hybridization

KW - patient

KW - single nucleotide polymorphism

KW - DNA microarray

KW - university hospital

KW - chromosome 1

KW - intellectual impairment

KW - American

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DO - 10.1111/epi.13241

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ER -

Copy number variants in a hospital-based cohort of children with epilepsy

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Keywords

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