Associated Papers
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.
Lilles S et al.
Pediatric Reports, 2026
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 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
Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.
Jokiel J et al.
Molecular Informatics, 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
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
Differences in molecular phenotype in mouse and human hypertrophic cardiomyopathy.
Vakrou S et al.
Scientific Reports, 2021
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
Winczewska-Wiktor A et al.
Epilepsy & Behavior : E&b, 2020
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
Mouhib H et al.
F1000research, 2019
iMusta4SLC: Database for the structural property and variations of solute carrier transporters.
Higuchi A et al.
Biophysics and Physicobiology, 2018
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.
Park MS
Plos One, 2015