Alexandre Girard

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).

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

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.