Associated Papers
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.
Han JY et al.
International Journal of Molecular Sciences, 2025
D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).
Amer A et al.
Jimd Reports, 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
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures.
Hanna G et al.
Journal of Molecular Biology, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
Mouhib H et al.
F1000research, 2019
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Recurrent Ataxia in Children and Adolescents.
Salman MS et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2017
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
Weller CM et al.
Cephalalgia : an International Journal of Headache, 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
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov T et al.
Epilepsia, 2012
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
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis.
Ullner PM et al.
Neurobiology of Disease, 2009
GLUT1 deficiency without epilepsy: yet another case.
Joshi C et al.
Journal of Child 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