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
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).
Yuan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes.
Jomura R et al.
Biological & Pharmaceutical Bulletin, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Treatment experience in two adults with creatinfe transporter deficiency.
Schjelderup J et al.
Molecular Genetics and Metabolism Reports, 2021
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Creatine transporter deficiency: Novel mutations and functional studies.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2016
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL et al.
Gene, 2015
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH et al.
Journal of Medical Genetics, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM et al.
Journal of Medical Genetics, 2013
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Valayannopoulos V et al.
Journal of Inherited Metabolic Disease, 2013
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D et al.
Orphanet Journal of Rare Diseases, 2012
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
Battini R et al.
American Journal of Medical Genetics. Part A, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006