Integrating Monogenic and Polygenic Epilepsy Risk Factors to Advance Molecular Diagnoses and to Understand Disease Risk

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago.

Bronwyn E Grinton, Colin A Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E Munro, Laure Mazzola, Pamela P McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna-Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F Berkovic, Gaetan Lesca, Karen L Oliver

2026-09-18

BACKGROUND: SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, ..