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Analysis of rare copy number variation in absence epilepsies.

Addis, L; Rosch, RE; Valentin, A; Makoff, A; Robinson, R; Everett, KV; Nashef, L; Pal, DK (2016) Analysis of rare copy number variation in absence epilepsies. Neurology Genetics, 2 (2). ISSN 2376-7839 https://doi.org/10.1212/NXG.0000000000000056
SGUL Authors: Everett, Kate Victoria

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Abstract

OBJECTIVE: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum. METHODS: We used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE). RESULTS: We identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.2 deletion. We also expanded the phenotype at 4 regions more commonly identified in other neurodevelopmental disorders: 1p36.33 duplication, 1q21.1 deletion, 22q11.2 duplication, and Xp22.31 deletion and duplication. Fifteen patients (10.5%) were found to carry rare CNVs that disrupt genes associated with neuronal development and function (8 CAE, 2 JAE, and 5 UAE). Four categories of protein are each disrupted by several CNVs: (1) synaptic vesicle membrane or vesicle endocytosis, (2) synaptic cell adhesion, (3) synapse organization and motility via actin, and (4) gap junctions. CNVs within these categories are shared across the AE subtypes. CONCLUSIONS: Our results have reinforced the complex and heterogeneous nature of the AEs and their potential for shared genetic mechanisms and have highlighted several pathways that may be important in epileptogenesis of absence seizures.

Item Type: Article
Additional Information: © 2016 American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Biomedical Education (INMEBE)
Journal or Publication Title: Neurology Genetics
Article Number: e56
ISSN: 2376-7839
Language: eng
Dates:
DateEvent
22 March 2016Published
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
Projects:
Project IDFunderFunder ID
UNSPECIFIEDSeventh Framework Programmehttp://dx.doi.org/10.13039/501100004963
UNSPECIFIEDNational Institute for Health Researchhttp://dx.doi.org/10.13039/501100000272
PubMed ID: 27123475
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/107964
Publisher's version: https://doi.org/10.1212/NXG.0000000000000056

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