Electroclinical presentation and genotype–phenotype relationships in patients with Unverricht‐Lundborg disease carrying compound heterozygous <i>CSTB</i> point and indel mutations

Abstract

EPM1A due to compound heterozygous CSTB mutations presents with variable but often markedly severe and particular phenotypes. Most of our patients presented with the electroclinical features of severe epilepsy, which is unexpected in homozygous patients, and showed frequent seizures resistant to pharmacologic treatment. The presence of variable phenotypes (even in siblings) suggests interactions with other genetic factors influencing the final disease presentation.