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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of

Childhood—a study of 155 patients



RARE CONNECT – Documents


Mutations in the ATP1A3 gene have been identified in CAPOS syndrome
CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) is a rare dominantly inherited syndrome. Researchers from Canada and the UK identified identical heterozygous missense mutation, c.2452G > A (p.(Glu818Lys), in three unrelated affected families with CAPOS.


Asystole in alternating hemiplegia with de novo ATP1A3 mutation
study in the UK investigated a  case with  new-onset episodes of collapse in early adulthood and found that these were caused by  episodes of asystole. The implantation of a pacemaker ceased  the episodes. The authors warn that potentially life-threatening cardiac arrhythmia can develop later in the course of alternating hemiplegia.

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.

Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. HERE we report the first genetic study in Chinese AHC cohort