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Article

First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.

BMC pediatrics - 24 Jan 2026

Sufrani Moftah Alhagamhmad

Abstract excerpt

BACKGROUND: Fahr’s disease is a rare neurodegenerative condition characterized by a combination of neurological and psychiatric manifestations, along with diffuse brain calcifications. It primarily affects adults and older individuals with heterozygous mutations of the Solute Carrier Family 20 Member 2 Gene (SLC20A2). Few cases have been reported in the pediatric population, typically associated with biallelic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41580645
DOI: 10.1186/s12887-026-06524-z
PMCID: PMC13077878

Genes

SLC20A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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