Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Xu JJ et al.
Pediatric Neurology, 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 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
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
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
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Silver G et al.
Genes, 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
Characterization of Speech and Language Phenotype in GLUT1DS.
Zanaboni MP et al.
Children (basel, Switzerland), 2021
A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.
Yu M et al.
Frontiers in Neurology, 2020
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
Barca E et al.
Jimd Reports, 2016
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.
Mongin M et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Wolking S et al.
Journal of Neurology, 2014
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
Flatt JF et al.
Blood, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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