Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Solute Carrier Family 2 Member 1 Gene Mutation Presenting as Adult-Onset Paroxysmal Exercise-Induced Dyskinesia Without Epilepsy.
Hwang YS et al.
Journal of Clinical Neurology (seoul, Korea), 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
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
PhosVarDeep: deep-learning based prediction of phospho-variants using sequence information.
Liu X et al.
Peerj, 2022
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.
Krgovic D et al.
Frontiers in Molecular Neuroscience, 2022
CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report.
Scoppola C et al.
Frontiers in Neurology, 2021
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
Vaudano AE et al.
Human Brain Mapping, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
New insights into GluT1 mechanics during glucose transfer.
Galochkina T et al.
Scientific Reports, 2019
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
PhosphoPICK-SNP: quantifying the effect of amino acid variants on protein phosphorylation.
Patrick R et al.
Bioinformatics (oxford, England), 2017
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
Vaudano AE et al.
Neuroimage. Clinical, 2017
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J et al.
Epilepsia, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE et al.
Molecular Cell, 2015
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V et al.
Seizure, 2015
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