Letter to the editor (Scientific journals)
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche, Holger; Berkovic, Sam F.; Lowenstein, Daniel H. et al.
2019In New England Journal of Medicine, 380 (16), p. 24
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Keywords :
Epilepsy; Juvenile Myoclonic Epilepsy; ICK
Abstract :
[en] With regard to the article by Bailey et al. (March 15, 2018, issue) on the potential role of variants in the gene encoding intestinal cell kinase (ICK) in genetic generalized epilepsies, including juvenile myoclonic epilepsy: We attempted replication by rechecking for enrichment of ICK variants in two previously published analyses of mainly familial cases of genetic generalized epilepsy, which included a total of 1149 cases of genetic generalized epilepsy and 5911 ethnically matched controls. We analyzed the burden of single-gene rare variants with the use of whole exome sequencing data, applying population stratification and both sample and variant quality control. We found no evidence of an enrichment of ICK variants in genetic generalized epilepsies or juvenile myoclonic epilepsy. Specifically, we did not detect a nonsynonymous variant in 357 persons with juvenile myoclonic epilepsy at a minor allele frequency at or below 0.1%. Although we cannot exclude the possibility that ICK variants may be population-specific risk factors for juvenile myoclonic epilepsy, the lack of validation in our cohorts does not support a true disease association but rather suggests that the authors’ results may be due to chance, possibly owing to methodologic issues (see the Supplementary Appendix, available with the full text of this letter at NEJM.org).
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
Lerche, Holger
Berkovic, Sam F.
Lowenstein, Daniel H.
EuroEPINOMICS-CoGIE
MAY, Patrick  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
BOBBILI, Dheeraj Reddy ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
KRAUSE, Roland  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
BALLING, Rudi ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
EpiPGX consortium
Peter, Sarah
Epi4K Consortium/Epilepsy Phenome/Genome
External co-authors :
yes
Language :
English
Title :
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Publication date :
18 April 2019
Journal title :
New England Journal of Medicine
ISSN :
0028-4793
eISSN :
1533-4406
Publisher :
Massachusetts Medical Society, Waltham, United States - Massachusetts
Volume :
380
Issue :
16
Pages :
e24
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 29 April 2019

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