Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease

Lafora disease is a rare, autosomal, recessive form of progressive myoclonus epilepsy (PME) [1]. Clinical manifestations typically involve myoclonus, tonic-clonic, absence and visual seizures that first appear during late childhood and adolescence. In addition, neuropsychiatric symptoms and progressive cognitive decline are often present. Lafora disease is caused by mutations in the EPM2A and NHLRC1 genes. A pathogenic variant in a third gene, PRDM8, has recently been reported, though this finding has yet to be confirmed [2].