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Article

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.

Neuropediatrics - 1 Aug 2018

Knuutinen Oula, Kousi Maria, Suo-Palosaari Maria, Moilanen Jukka S, Tuominen Hannu, Vainionpää Leena, Joensuu Tarja, Anttonen Anna-Kaisa, Uusimaa Johanna, Lehesjoki Anna-Elina, Vieira Päivi

Abstract excerpt

Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant...

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Identifiers

PMID: 29801191
DOI: 10.1055/s-0038-1649500

Genes

GFAP
KCNQ2

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Related research

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Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.PMID 29801191Read ↗

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

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

Alexander Disease: A Literature Review for Clinicians.Semantic proximity Read ↗

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

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.Semantic proximity Read ↗

Type I Alexander disease: Update and validation of the clinical evolution-based classification.Semantic proximity Read ↗

A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.Semantic proximity Read ↗

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

[Clinical characteristics and diagnostic criteria on Alexander disease].Semantic proximity Read ↗

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