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Article

Natural history of Christianson syndrome.

American journal of medical genetics. Part A - 1 Nov 2010

Schroer Richard J, Holden Kenton R, Tarpey Patrick S, Matheus Maria Giselle, Griesemer David A, Friez Michael J, Fan Jane Zheng, Simensen Richard J, Strømme Petter, Stevenson Roger E, Stratton Michael R, Schwartz Charles E

Abstract excerpt

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted...

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Identifiers

PMID: 20949524
DOI: 10.1002/ajmg.a.33093
PMCID: PMC3698558

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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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Natural history of Christianson syndrome.PMID 20949524Read ↗

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.Semantic proximity Read ↗

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.Semantic proximity Read ↗

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and AdultsSemantic proximity Read ↗

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.Semantic proximity Read ↗

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.Semantic proximity Read ↗

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.Semantic proximity Read ↗

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).Semantic proximity Read ↗

Christianson syndrome: spectrum of neuroimaging findings.Semantic proximity Read ↗

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.Semantic proximity Read ↗

Novel SLC9A6 mutations in two families with Christianson syndrome.Semantic proximity Read ↗

Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.Semantic proximity Read ↗

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.Semantic proximity Read ↗

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