Copy Number Variants in Epileptic Encephalopathy

J Gordon Millichap

doi:10.15844/pedneurbriefs-26-2-2

Copy Number Variants in Epileptic Encephalopathy

Pediatric Neurology Briefs

Volume 26 (2012): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2012

Abstract

An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-genome oligonucleotide array.

References

Mefford HC Yendle SC Hsu C Cook J Geraghty E McMahon JM Rare copy number variants are an important cause of epileptic encephalopathies Ann Neurol 2011 Dec 70 6 974 985 10.1002/ana.22645 22190369
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Paciorkowski AR Thio LL Rosenfeld JA Gajecka M Gurnett CA Kulkarni S Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function Eur J Hum Genet 2011 Dec 19 12 1238 1245 10.1038/ejhg.2011.121 21694734
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-26-2-2 | Journal eISSN: 2166-6482

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Language: English

Page range: 10 - 10

Published on: Feb 1, 2012

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Copy Number Variants,

Comparative Genomic Hybridization,

Epileptic Encephalopathies

© 2012 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 26 (2012): Issue 2