A novel splice variant in <i>EMC1</i> is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

Abstract

We report, for the first time the role of aberrant EMC1RNA splicing as a potential cause of disease pathogenesis. The severe epilepsy observed in our study expands the disease-associated phenotype and also emphasizes the need for comprehensive screening of intronic splice mutations.