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3196247 
Journal Article 
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation 
Dard, R; Mignot, C; Durr, A; Lesca, G; Sanlaville, D; Roze, E; Mochel, F 
2015 
Yes 
Developmental Medicine and Child Neurology
ISSN: 0012-1622
EISSN: 1469-8749 
57 
12 
1183-1186 
English 
26400718 
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 female presenting with a new ATP1A3-related entity involving a relapsing encephalopathy characterized by recurrent episodes of cerebellar ataxia and altered consciousness during febrile illnesses. The term RECA is suggested - relapsing encephalopathy with cerebellar ataxia. The phenotype of this patient, resembling mitochondrial oxidative phosphorylation defects, emphasizes the possible role of brain energy deficiency in patients with ATP1A3 mutations. Rather than multiple overlapping syndromes, ATP1A3-related disorders might be seen as a phenotypic continuum.