Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Klepper, Joerg; I. Akman, Cigdem; Armeno, Marisa; Auvin, Stéphane; C. Cervenka, Mackenzie; Helen Cross, J.; De Giorgis, Valentina; Della Marina, Adela; Engelstad, Kristin; Heußinger, Nicole; H. Kossoff, Eric; G. Leen, Wilhelmina; Leiendecker, B.; R. Monani, Umrao; Oguni, Hirokazu; Neal, Elizabeth; M. Pascual, Juan; S. Pearson, Toni; Pons, Roser; E. Scheffer, Ingrid; Veggiotti, Pierangelo; A.A.P. Willemsen, Michèl; M. Zuberi, Sameer; C. De Vivo, Darryl

doi:10.1002/epi4.12414

Public

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Published in Epilepsia Open • Jun 27, 2020

Authors:

Joerg Klepper

Cigdem I. Akman

Marisa Armeno

Abstract

Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effect...

Subject

State (computer science)

Group (periodic table)

Political science

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!