Associated Papers
First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.
Sufrani MA
Bmc Pediatrics, 2026
Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature.
Baker L et al.
Case Reports in Genetics, 2025
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
Ceylan AC 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
A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
Huang YT et al.
Brain Research Bulletin, 2019
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
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