ArticleCase reports in genetics2025
Rare Presentation of Homozygous S
Article in Case reports in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- Rare Presentation of Homozygous SCase reports in genetics · 2025Article
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary familial basal ganglia calcification (PFBC), also known as Fahr's disease, is a rare neurodegenerative condition characterized by bilateral calcifications in the basal ganglia and other brain regions. While it predominantly presents in adulthood and is commonly associated with heterozygous mutations, rare homozygous pathogenic variants may lead to severe early-onset manifestations. We present a unique case of PFBC in a 2-month-old female infant who exhibited focal motor seizures shortly after routine immunization. Neuroimaging revealed bilateral basal ganglia calcifications, multifocal cerebral infarcts, and evidence of significant intra-arterial cerebral vasculopathy. Genetic testing confirmed a homozygous pathogenic variant in the
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