A missense variant in the gene cause Epileptic Encephalopathy and seizures in Saudi family.

We identified the gene responsible for the multifunctional sorting protein that play a role in nuclear gene expression as well as pathway traffic regulation. Diseases associated with include early infantile epileptic encephalopathy (EIEE66), alacrima, achalasia, and mental retardation syndrome. Whole exome sequencing (WES) technique was used for the identification of variants that may lead to the disease. We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy. Our results showed a heterozygous missense variant gene leading to intellectual disability, epilepsy and cause epileptic encephalopathies (EIEE66) disorder. WES data was analyzed and identified variants were further confirmed by Sanger sequencing validation technique. We identified a heterozygous missense c.625G>A p.Glu209Lys in exon-6 of . The detected heterozygous mutation in the exon-6 region of gene change the protein features and may cause disease. Further, explain the possibility that gene play important role to cause intellectual disability, epilepsy and epileptic encephalopathies in this Saudi family.