Berge A. Minassian

This study investigates the association between rare non-coding deleterious variants and epilepsy, finding a significant link with genetic generalized epilepsy (GGE) but not with non-acquired focal epilepsy (NAFE).

The paper identifies a potential pathogenic STR expansion in an epilepsy cohort using whole genome sequencing and three software tools, highlighting discrepancies in variant calling.

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.