Genetics: In the first years, she underwent different genetic testing (Sanger sequencing) in order to exclude Unverricht–Lundborg disease (cystatin B, CSTB), PME with renal failure (SCARB2), Lafora disease (laforin—EPM2A, and malin—NHLRC1). The gene discussed is EPM2A; the disease is progressive myoclonus epilepsy.