Associated Papers
A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report.
Wang L et al.
Acta Neurologica Belgica, 2023
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.
López-Sánchez U et al.
The Journal of Biological Chemistry, 2020
Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.
Nishii K et al.
Scientific Reports, 2019
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
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 2019
Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.
Takase N et al.
Scientific Reports, 2017
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification.
Liu X et al.
Journal of the Neurological Sciences, 2016
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
Primary familial brain calcification: Genetic analysis and clinical spectrum.
Taglia I et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C et al.
Nature Genetics, 2012