Associated Papers
Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Xu JJ et al.
Pediatric Neurology, 2025
Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.
Falsaperla R et al.
Epilepsia Open, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 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
GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult.
Horckmans S et al.
Acta Neurologica Belgica, 2024
Sleep Disorders in Patients with Choreic Syndromes.
Jiménez-Jiménez FJ et al.
Current Neurology and Neuroscience Reports, 2023
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
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J et al.
Nutrients, 2021
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
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.
Ramm-Pettersen A et al.
Epilepsy & Behavior : E&b, 2017
Atypical Manifestations in Glut1 Deficiency Syndrome.
De Giorgis V et al.
Journal of Child Neurology, 2016
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness.
Giliberto C et al.
European Journal of Neurology, 2016
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Mercimek-Mahmutoglu S et al.
Orphanet Journal of Rare Diseases, 2015
Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.
Ragona F et al.
Neuropediatrics, 2014
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
Flatt JF et al.
Blood, 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
Genetics of paroxysmal dyskinesias.
Weber YG et al.
Current Neurology and Neuroscience Reports, 2009
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber YG et al.
The Journal of Clinical Investigation, 2008