Disease_Mapped_To_Gene Cellosaurus Disease Terminology EPM2A Gene NHLRC1 Gene Rare Non-Neoplastic Disorder Lafora Disease Cellosaurus A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia. Disease or Syndrome Lafora Disease C84804 C0751783 Lafora Disease