Universität zu Köln

Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E. and Hildebrand, Michael S. (2018). KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PLoS One, 13 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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Abstract

Background KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. Materials and methods We screened KANSL1 for single nucleotide variants in 90 patients with SFEC. We then screened a cohort of 208 patients with two specific SFEC syndromes, childhood epilepsy with centrotemporal spikes (CECTS) and atypical childhood epilepsy with centrotemporal spikes (ACECTS) for KANSL1 variants. The second cohort was also used to evaluate minor allelic variants that appeared overrepresented in the initial cohort. Results One variant, p.Lys104Thr, was predicted damaging and appeared overrepresented in our 90-patient cohort compared to Genome Aggregation Database (gnomAD) allele frequency (0.217 to 0.116, with no homozygotes in gnomAD). However, there was no difference in p. Lys104Thr allele frequency in the follow-up CECTS/ACECTS cohort and controls. Four rare KANSL1 variants of uncertain significance were identified in the CECTS/ACECTS cohort. Discussion Our data do not support a major role for KANSL1 variants in pathogenesis of SFEC.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Myers, Kenneth A. UNSPECIFIED UNSPECIFIED UNSPECIFIED McGlade, Amelia UNSPECIFIED UNSPECIFIED UNSPECIFIED Neubauer, Bernd A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Berkovic, Samuel F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Scheffer, Ingrid E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hildebrand, Michael S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-198655
DOI:	10.1371/journal.pone.0191546
Journal or Publication Title:	PLoS One
Volume:	13
Number:	1
Date:	2018
Publisher:	PUBLIC LIBRARY SCIENCE
Place of Publication:	SAN FRANCISCO
ISSN:	1932-6203
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ROLANDIC EPILEPSY; PROTEIN; ACETYLATION Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/19865