Phenotypic variability of GLUT1 deficiency: When is necessary to suspect?
Sign Up to like & getrecommendations! Published in 2020 at "Revista chilena de pediatria"
DOI: 10.32641/rchped.v91i2.1185
Abstract: INTRODUCTION Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements,… read more here.
Keywords: diagnosis; phenotypic variability; variability glut1; deficiency ... See more keywords