Associated Papers
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Delinière A et al.
Heart Rhythm, 2026
Rescue of Epilepsy-Associated Mutations of the Highly Conserved Glycine Residue 443 in the Human GABA Transporter 1.
Shah N et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M et al.
American Journal of Medical Genetics. Part A, 2024
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E et al.
Journal of Molecular Biology, 2024
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S et al.
Molecular Genetics and Metabolism Reports, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S et al.
Molecular Genetics and Metabolism Reports, 2023
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M et al.
Molecular Genetics and Metabolism, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD et al.
Biochemistry, 2020
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
Dreha-Kulaczewski S et al.
Jimd Reports, 2014