Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/17052
Title: KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Authors: Myers, Kenneth A;McGlade, Amelia;Neubauer, Bernd A;Lal, Dennis;Berkovic, Samuel F;Scheffer, Ingrid E;Hildebrand, Michael S
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Universitäts-Kinderklinik Giessen und Marburg, Standort Giessen, Giessen, Germany.
Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T., Cambridge, Massachusetts, United States of America.
Issue Date: 19-Jan-2018
EDate: 2018-01-19
Citation: PloS one 2018; 13(1): e0191546
Abstract: 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. 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. 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. Our data do not support a major role for KANSL1 variants in pathogenesis of SFEC.
URI: http://ahro.austin.org.au/austinjspui/handle/1/17052
DOI: 10.1371/journal.pone.0191546
ORCID: 0000-0001-7831-4593
0000-0003-4580-841X
0000-0002-2311-2174
0000-0003-2739-0515
PubMed URL: 29352316
PubMed URL: https://www.ncbi.nlm.nih.gov/pubmed/29352316
Type: Journal Article
Appears in Collections:Journal articles

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