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Article

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2009

Barbagallo Massimo, Pavone Piero, Incorpora Gemma, Domenico Praticò Andrea, Romantshik Olga, Friso Simonetta, Spalice Alberto, Nicita Francesco, Polizzi Agata, Ruggieri Martino, Iannetti Paola

Abstract excerpt

BACKGROUND: Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. PATIENTS AND METHODS: We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right...

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Source

Identifiers

PMID: 18958479
DOI: 10.1007/s00381-008-0724-3

Genes

MTHFR
RFC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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