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Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.

Acta neurologica Belgica - 1 Oct 2023

Ceylan Ahmet Cevdet, Kireker Köylü Oya, Özyürek Hamit, Özaydin Eda, Yön Mehmet İlker, Kasapkara Çiğdem Seher

Abstract excerpt

BACKGROUND: Idiopathic basal ganglia calcification, also known as Fahr's disease, it is a neurological disease characterized by intracranial calcification caused by heterozygous SLC20A2 mutations. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, tremor, dystonia, ataxia, and seizures. OBJECTIVES: The aim of this study was to...

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PMID: 35881308
DOI: 10.1007/s13760-022-02044-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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