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Article

[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

Revista de neurologia - 1 Oct 2016

Florido-Rodriguez A, Eiris-Punal J, Barros-Angueira F, Toledo-Bravo de Laguna L, Santana-Artiles A, Sebastian-Garcia I, Santana-Rodriguez A, Cabrera-Lopez J C

Abstract excerpt

INTRODUCTION: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Interferon-Induced Helicase, IFIH1

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Source

Identifiers

PMID: 27658362

Genes

IFIH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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