Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort. (July 2015)

• Record Type: Journal Article
• Authors: Allen, Nicholas M.; Conroy, Judith; Shahwan, Amre; Ennis, Sean; Lynch, Bryan; Lynch, Sally A.; King, Mary D.
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 4(2015:Jul.)
• Page Start: 390
• Page End: 394
• Publication Date: 2015-07
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2015.03.010
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0015">Background</title> <p id="abspara0010">Severe early onset epilepsy may lead to impaired cognitive and motor development, and consists of a group of specific and overlapping electro-clinical phenotypes which may be the result of an inborn error of metabolism, congenital or acquired structural brain lesion, known chromosomal or mono-genetic disorder. A significant proportion of cases however remain unexplained, representing a major diagnostic and management challenge.</p> </sec> <sec> <title id="sectitle0020">Methods</title> <p id="abspara0015">In this study we describe a cohort of children with severe early onset epilepsy and examine the clinical utility of chromosomal microarray (array-comparative genomic hybridisation, CGH) in this group of epilepsies.</p> </sec> <sec> <title id="sectitle0025">Results</title> <p id="abspara0020">In 51 children with unexplained severe early onset epilepsy, all of whom had chromosomal array tested, copy number variants were detected in 17.6% and pathogenic variants in 5.9% of infants.</p> </sec> <sec> <title id="sectitle0030">Conclusions</title> <p id="abspara0025">Chromosomal microarray is a useful investigation in early onset refractory epilepsy and epileptic encephalopathy. Detailed review of the precise array abnormality and phenotypes associated are important for determining significance.</p> </sec> </abstract>