Abstract
Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the SLC2A1 gene. Mutations in SLC2A1 will lead to a variety of symptoms known as GLUT1 deficiency syndrome. In this article, we report a novel heterozygous intronic variant c.1278+12delC in the SLC2A1 gene in a Saudi patient with myoclonic epilepsy. We also report a new clinical phenotype where the patient has pure myoclonic epilepsy with no focal, absence, or atonic seizures and normal developmental and cognitive functions that started in childhood rather than infancy. Our study enriches the mutation-spectrum of the SLC2A1 gene and stresses on the importance of whole-exome sequencing in the diagnosis of genetic epilepsies. Early diagnosis and initiation of a ketogenic diet are important goals for the successful management of patients with GLUT1 deficiency syndrome.