Associated Papers
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.
Zhang D et al.
Acta Epileptologica, 2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.
Ha HT et al.
Jci Insight, 2024
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Longstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome.
Coleman J et al.
Movement Disorders Clinical Practice, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.
Pucciarelli V et al.
Clinical Anatomy (new York, N.y.), 2017
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
Ito Y et al.
Brain & Development, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE et al.
Molecular Cell, 2015
GLUT1 deficiency syndrome 2013: current state of the art.
De Giorgis V et al.
Seizure, 2013
Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.
Cunningham P et al.
The Journal of Membrane Biology, 2013
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N et al.
Journal of Human Genetics, 2011
Glut1 deficiency syndrome and erythrocyte glucose uptake assay.
Yang H et al.
Annals of Neurology, 2011
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G et al.
Developmental Medicine and Child Neurology, 2011
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.
Fujii T et al.
Brain & Development, 2011
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Anheim M et al.
Journal of Neurology, 2011
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.
Akman CI et al.
Annals of Neurology, 2010
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
Wang D et al.
Pediatric Research, 2008
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A et al.
Brain : a Journal of Neurology, 2008
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.
Pascual JM et al.
The Journal of Biological Chemistry, 2008
GLUT1 deficiency syndrome--2007 update.
Klepper J et al.
Developmental Medicine and Child Neurology, 2007
Three Japanese patients with glucose transporter type 1 deficiency syndrome.
Fujii T et al.
Brain & Development, 2007
Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
Wong HY et al.
Molecular Genetics and Metabolism, 2007
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005
Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.
Qian H et al.
Medicine International, 0