Type

Journal Article

Authors

Mary D King
Sally A Lynch
Sean Ennis
David Webb
Christian M Korff
Thierry W Deonna
Donncha Hanrahan
Margaret Moran
Bronwyn Parry-Fielder
Kevin Collins
and 4 others

Subjects

Biochemistry

Topics
female landau kleffner syndrome genetics cell adhesion molecules neuronal nid2 protein human genetic predisposition to disease bsn protein human male young adult comparative genomic hybridization polymorphism single nucleotide receptors n methyl d aspartate cell adhesion molecules oligonucleotide array sequence analysis child receptor ephb2 twins monozygotic n methyl d aspartate receptor subtype ephb2 protein human reelin protein adult extracellular matrix proteins nerve tissue proteins humans serine endopeptidases adolescent

Towards the identification of a genetic basis for Landau-Kleffner syndrome. (2014)

Abstract To establish the genetic basis of Landau-Kleffner syndrome (LKS) in a cohort of two discordant monozygotic (MZ) twin pairs and 11 isolated cases. We used a multifaceted approach to identify genetic risk factors for LKS. Array comparative genomic hybridization (CGH) was performed using the Agilent 180K array. Whole genome methylation profiling was undertaken in the two discordant twin pairs, three isolated LKS cases, and 12 control samples using the Illumina 27K array. Exome sequencing was undertaken in 13 patients with LKS including two sets of discordant MZ twins. Data were analyzed with respect to novel and rare variants, overlapping genes, variants in reported epilepsy genes, and pathway enrichment. A variant (cG1553A) was found in a single patient in the GRIN2A gene, causing an arginine to histidine change at site 518, a predicted glutamate binding site. Following copy number variation (CNV), methylation, and exome sequencing analysis, no single candidate gene was identified to cause LKS in the remaining cohort. However, a number of interesting additional candidate variants were identified including variants in RELN, BSN, EPHB2, and NID2. A single mutation was identified in the GRIN2A gene. This study has identified a number of additional candidate genes including RELN, BSN, EPHB2, and NID2. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Mary D King, Sally A Lynch, Sean Ennis, David Webb, Christian M Korff, Thierry W Deonna, Donncha Hanrahan, Margaret Moran, Bronwyn Parry-Fielder, Kevin Collins and 4 others

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
Sean Ennis
University College Dublin
Total Publications: 52
 
4
David Webb
University College Dublin
Total Publications: 8