Expanding the spectrum of <i>NUS1</i>-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

ABSTRACT:

Introduction

Progressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We report the case of a 41-year-old woman who presented with tics, myoclonus, and language difficulties followed by gait instability, tremor, absence seizures, and psychotic symptoms including persistent hallucinations and delusional misidentification.

Methods

Neurology and psychiatry specialists reviewed clinical data. Brain MRI, scalp video-EEG monitoring, and [18F]-FDG-PET/MRI were performed following standardized protocols. Whole exome sequencing (WES) guided by human phenotype ontology (HPO) terms was performed, and

SUBMITTER: Sau C 

PROVIDER: S-EPMC12755855 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature