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European Network for Research on Alternating Hemiplegia
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Mutations in the ATP1A3 gene have been identified in CAPOS syndrome (NEW)

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.
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