Reference : Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Scientific journals : Letter to the editor
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/39420
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
English
Lerche, Holger []
Berkovic, Sam F. []
Lowenstein, Daniel H. []
EuroEPINOMICS-CoGIE []
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Bobbili, Dheeraj Reddy mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Krause, Roland mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
EpiPGX consortium []
Peter, Sarah mailto []
Epi4K Consortium/Epilepsy Phenome/Genome []
18-Apr-2019
New England Journal of Medicine
Massachusetts Medical Society
380
16
e24
Yes (verified by ORBilu)
International
0028-4793
1533-4406
Waltham
MA
[en] Epilepsy ; Juvenile Myoclonic Epilepsy ; ICK
[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).
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
http://hdl.handle.net/10993/39420
10.1056/NEJMc1805100
https://www.ncbi.nlm.nih.gov/pubmed/30995385?report=abstract

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