Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy

Complex heterozygous mutations at the newly identified locus of LMAN2L cause refractory epilepsy, with epileptic symptoms beginning at 2 months of age and manifesting as multiple seizure types and developmental delays. This is the first report to link LMAN2L to the phenotype of epileptic encephalopathy and refractory epilepsy, suggesting that the heterozygous p.D159G, p.S354Pfs*29 LMAN2L variants are likely pathogenic. These 2 newly identified pathogenic variants enrich the spectrum of pathogenic variants in the LMAN2L gene.