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Glut1 Deficiency

Glut1 Deficiency diagram by ChemPro, Wikimedia
ChemPro, Wikimedia

Glut1 Deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Here is the latest research on Glut1 Deficiency.

Top 20 most recent papers
bioRxiv

Structural comparative analysis of GLUT1 and GLUT3 reveal role of SP motif in transport regulation

bioRxivFebruary 26, 2020
Tânia Filipa CustódioBjørn Panyella Pedersen
19
Epilepsy & Behavior : E&B

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

Epilepsy & Behavior : E&BApril 5, 2020
Anna Winczewska-WiktorBarbara Steinborn
3
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology SocietyMarch 20, 2019
Yvonne A C BekkerHilde M H Braakman
3
19
Epilepsy Research

Identifying mutations in epilepsy genes: Impact on treatment selection

Epilepsy ResearchMarch 15, 2019
Piero Perucca, Emilio Perucca
2
33
Annals of Clinical and Translational Neurology

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Annals of Clinical and Translational NeurologyAugust 30, 2019
Maoxue TangUmrao R Monani
1
6
The American Journal of Case Reports

Total Intravenous Anesthesia in GLUT1 Deficiency Syndrome Patient: A Case Report

The American Journal of Case ReportsMay 6, 2019
Jan KlokaFlorian Jürgen Raimann
Archives of Biochemistry and Biophysics

WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1

Archives of Biochemistry and BiophysicsDecember 10, 2019
Andreia F A HenriquesPeter Jordan
Cancers

GLUT1 and TUBB4 in Glioblastoma Could be Efficacious Targets

CancersSeptember 8, 2019
Maheedhara R GudaKiran K Velpula
1
7
Brain and Behavior

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Brain and BehaviorFebruary 5, 2019
Valentina De GiorgisPierangelo Veggiotti
2
1
12

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