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Article

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

Brain & development - 1 Aug 2018

Matsumoto Ayumi, Tulyeu Janyerkye, Furukawa Rieko, Watanabe Chika, Monden Yukifumi, Nozaki Yasuyuki, Mori Masato, Namekawa Michito, Jimbo Eriko F, Aihara Toshinori, Yamagata Takanori, Osaka Hitoshi

Abstract excerpt

Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed independent sharp waves in the right and left temporal area. Magnetic resonance imaging showed high intensity T1-weighted...

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Identifiers

PMID: 29573842
DOI: 10.1016/j.braindev.2018.03.002

Genes

GFAP

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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.

Related research

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A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.PMID 29573842Read ↗

GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant.Semantic proximity Read ↗

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Two novel GFAP mutations and genotype-phenotype associations in Alexander diseaseSemantic proximity Read ↗

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.Semantic proximity Read ↗

Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease.Semantic proximity Read ↗

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Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.Semantic proximity Read ↗

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Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.Semantic proximity Read ↗

Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.Semantic proximity Read ↗

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