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Article

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

Journal of child neurology - 1 Nov 2015

Heimer Gali, Sadaka Yair, Israelian Lori, Feiglin Ariel, Ruggieri Alessandra, Marshall Christian R, Scherer Stephen W, Ganelin-Cohen Esther, Marek-Yagel Dina, Tzadok Michal, Nissenkorn Andreea, Anikster Yair, Minassian Berge A, Zeev Bruria Ben

Abstract excerpt

We describe the molecular basis of a distinctive syndrome characterized by infantile stress-induced episodic weakness, ataxia, and sensorineural hearing loss, with permanent areflexia and optic nerve pallor. Whole exome sequencing identified a deleterious heterozygous c.2452 G>A, p.(E818K) variant in the ATP1A3 gene and structural analysis predicted its protein-destabilizing effect. This variant has not been...

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PMID: 25895915
DOI: 10.1177/0883073815579708

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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.

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