Associated Papers
Critical importance of accurate diagnosis in treatable neurometabolic disorders: insights from a large Chinese cohort with glucose transporter-1 deficiency syndrome.
Xiong H
World Journal of Pediatrics : Wjp, 2025
Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.
Zhang MJ et al.
World Journal of Pediatrics : Wjp, 2025
The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome.
Zhang MJ et al.
Frontiers in Neurology, 2025
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
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability.
Bayanova M et al.
Molecular Neurobiology, 2023
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Bourque DK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency.
Diaz J et al.
Frontiers in Pediatrics, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
Hewson S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
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
New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch.
Almuqbil M et al.
Pediatric Neurology, 2015
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
Ramm-Pettersen A et al.
Developmental Medicine and Child Neurology, 2013
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
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
Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.
Coman DJ et al.
Journal of Paediatrics and Child Health, 2006
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
Klepper J et al.
European Journal of Pediatrics, 2002
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Wang D et al.
Human Mutation, 2000
GLUT-1 Deficiency Syndrome; HSP Mimic: A Case Report.
Rohatgi S et al.
Annals of Indian Academy of Neurology, 0