AHC International Alliance Trifold Brochure
AHC International Alliance 4 Page Brochure
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of
Childhood—a study of 155 patients
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.
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