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Article

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Developmental medicine and child neurology - 1 Dec 2015

Dard Rodolphe, Mignot Cyril, Durr Alexandra, Lesca Gaetan, Sanlaville Damien, Roze Emmanuel, Mochel Fanny

Abstract excerpt

ATP1A3, the gene encoding the α3-subunit of the Na(+) /K(+) -ATPase pump, has been involved in four clinical neurological entities: (1) alternating hemiplegia of childhood (AHC); (2) rapid-onset dystonia parkinsonism (RDP); (3) CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; and (4) early infantile epileptic encephalopathy. Here, we report on a 34-year-old...

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Identifiers

PMID: 26400718
DOI: 10.1111/dmcn.12927

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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