Journal article
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stephane Auvin, Mackenzie Cervenka, Helen J Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H Kossoff, Wilhelmina G Leen, Baerbel Leiendecker, Umrao R Monani, Hirokazu Oguni, Elizabeth Neal, Juan M Pascual, Toni S Pearson, Roser Pons, Ingrid E Scheffer Show all
EPILEPSIA OPEN | WILEY | Published : 2020
DOI: 10.1002/epi4.12414
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 effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, respo..
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Awarded by NIH
Funding Acknowledgements
NIH, Grant/Award Number: NS077015 and NS094257