GLUT1 Deficiency Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** A genetic condition usually inherited in an autosomal dominant pattern. It is caused by mutation(s) in the SCL2A1 gene, encoding solute carrier family 2, facilitated glucose transporter member 1. It is characterized by wide phenotypic variability, but may include infantile onset epileptic encephalopathy with delayed development, acquired microcephaly, motor dysfunction, and spasticity.

**Synonyms:** - GLUT1DS1