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Article

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Paquay Stéphanie, Wiame Elsa, Deggouj Naima, Boschi Antonella, De Siati Romolo Daniele, Sznajer Yves, Nassogne Marie-Cécile

Abstract excerpt

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old....

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Share to Cerebellar Ataxia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sodium-Potassium-Exchanging ATPase

Source

Identifiers

PMID: 29287866
DOI: 10.1016/j.ijporl.2017.11.022

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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