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Article

Novel pregnancy-triggered episodes of CAPOS syndrome.

American journal of medical genetics. Part A - 1 Jan 2018

Chang Irene J, Adam Margaret P, Jayadev Suman, Bird Thomas D, Natarajan Niranjana, Glass Ian A

Abstract excerpt

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na+ /K+ ATPase α3. We describe a large...

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Source

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Identifiers

PMID: 29090527
DOI: 10.1002/ajmg.a.38502
PMCID: PMC5726903

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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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Novel pregnancy-triggered episodes of CAPOS syndrome.PMID 29090527Read ↗

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