Literature Review

Variants in One Gene May Account for 7% of Juvenile Myoclonic Epilepsy Cases


 

“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.

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