Lafora disease (NHLRC1) associated with multiple malformations of cortical development: A clinical vignette

Abstract

Progressive myoclonic epilepsies (PME) are a group of neurodegenerative diseases characterized by the presence of generalized myoclonic seizures, generalized tonic– clonic seizures, ataxia, and variable cognitive impairment.1 Within this group, the most frequently reported are Unverricht–Lundborg disease, followed by Lafora disease (LD), among others.2 In LD, the affected genes are EPM2A (coding for laforin) and NHLRC1 (coding for malin).3 We present the case of a 14-year-old female diagnosed with PME due to LD, with a pathogenic variant in the NHLRC1 gene and multiple malformations of cortical development (MCD), an association not previously described.