Developmental and epileptic encephalopathy-38 (DEE38) is transmitted in an autosomal recessive manner, which means that both copies of the gene must carry the mutations for the disease to occur. Different types of disease-causing variants in ARV1 can occur in the ARV1 gene, and must affect both alleles (copies) of the gene to cause a disease. When the ARV1 gene is mutated, there is a reduced cell-surface expression of GPI-anchored proteins. The GPI-anchored proteins are important for the development and functioning of the brain.
ARV1