Ontology highlight
ABSTRACT:
SUBMITTER: Algahtani H
PROVIDER: S-EPMC7494885 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Algahtani Hussein H Shirah Bader B Albarakaty Ahmad A Al-Qahtani Mohammad H MH Abdulkareem Angham Abdulrahman AA Naseer Muhammad Imran MI
Journal of epilepsy research 20200630 1
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 <i>SLC2A1</i> gene. Mutations in <i>SLC2A1</i> 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 <i>SLC2A1</i> gene in a Saudi patient with myoclonic epilepsy. We also report a new clinical ph ...[more]