G. d'Orsi

Empagliflozin in Lafora disease: A first-in-human 6-month pilot study with electroclinical and FDG-PET findings.

OBJECTIVE Lafora disease (LD) is a rare, fatal neurodegenerative epilepsy with no approved treatments. Empagliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, has shown neuroprotective actions in preclinical models through modulation of glycogen metabolism, induction of a pseudo-ketogenic state, improved mit...

Familial prrt2-negative paroxysmal kinesigenic dyskinesia mimicking frontal lobe epilepsy: a video-eeg/polygraphic documentation

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

The practical value of this approach lies not only in diagnostic yield, but in showing that structured adult reassessment remains clinically worthwhile, shows that adults with suspected DEE can still benefit from careful diagnostic reassessment, even years after childhood.