Associated Papers
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Genetic background of neurological disorders with basal ganglia calcification.
Yektay Farahmand M et al.
Journal of Neurology, 2025
The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.
Lin Z et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S et al.
Journal of the Neurological Sciences, 2024
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR et al.
Clinical Genetics, 2023
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene.
Birkeland NA et al.
Parkinsonism & Related Disorders, 2022
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.
Woo KA et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Zhan FX et al.
Neuroscience Letters, 2020
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX et al.
Human Mutation, 2019
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Lamquet S et al.
Annals of Clinical and Translational Neurology, 2019
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Fjaer R et al.
European Journal of Medical Genetics, 2015
Primary familial brain calcification: update on molecular genetics.
Taglia I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Lemos RR et al.
Human Mutation, 2015
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.
Rubino E et al.
Journal of Neurology, 2014
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC et al.
Neurogenetics, 2013