Variants in One Gene May Account for 7% of Juvenile Myoclonic Epilepsy Cases
Data indicate that pathogenic variants in ICK cause juvenile myoclonic epilepsy by disrupting mitosis, neuroblast migration, and apoptosis.
Neurology Reviews. 2018 May;26(5):8
May 2, 2018|Epilepsy Resource Center
“The data we obtained through the use of electroporated slices of mouse brain support the conclusion that pathogenic variants in ICK cause 7% of cases of juvenile myoclonic epilepsy by disrupting mitosis, neuroblast migration, and apoptosis,” they concluded.
The study was funded by private and public grants. Several authors are coholders of patents on EFHC1-based diagnostics and therapeutics that have been licensed to Athena Diagnostics.
—Michele G. Sullivan
Suggested Reading
Bailey JN, de Nijs L, Bai D, et al. Variant intestinal-cell kinase in juvenile myoclonic epilepsy. N Engl J Med. 2018; 378(11): 1018-1028.
