Type

Journal Article

Authors

Mary D King
Sally A Lynch
Bryan Lynch
Sean Ennis
Amre Shahwan
Judith Conroy
Nicholas M Allen

Subjects

Medicine & Nursing

Topics
single epilepsy metabolism cognitive development severe microarray clinical utility centre

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort. (2014)

Abstract 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. 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. 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. 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.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Mary D King, Sally A Lynch, Bryan Lynch, Sean Ennis, Amre Shahwan, Judith Conroy, Nicholas M Allen

Experts in our system

1
Mary D King
University College Dublin
Total Publications: 27
 
2
Sally Ann Lynch
University College Dublin
Total Publications: 32
 
3
Bryan Lynch
University College Dublin
Total Publications: 3
 
4
Sean Ennis
University College Dublin
Total Publications: 52
 
5
Judith Conroy
University College Dublin
Total Publications: 24
 
6
Nicholas M Allen
National University of Ireland Galway
Total Publications: 11