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Article

Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua.

Journal of child neurology - 1 Jun 2016

Bonthius Daniel J, Karacay Bahri

Abstract excerpt

Alexander disease is a genetically induced leukodystrophy, due to dominant mutations in the glial fibrillary acidic protein (GFAP ) gene, causing dysfunction of astrocytes. We have identified a novel GFAP mutation, associated with a novel phenotype for Alexander disease. A boy with global developmental delay and hypertonia was found to have a leukodystrophy. Genetic analysis revealed a heterozygous point mutation...

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Source

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Identifiers

PMID: 26719496
DOI: 10.1177/0883073815624762
PMCID: PMC4865433

Genes

GFAP

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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Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua.PMID 26719496Read ↗

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