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Article

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics - 1 Jan 2017

Hully Marie, Ropars Juliette, Hubert Laurence, Boddaert Nathalie, Rio Marlene, Bernardelli Mathieu, Desguerre Isabelle, Cormier-Daire Valerie, Munnich Arnold, de Lonlay Pascale, Reilly Louise, Besmond Claude, Bahi-Buisson Nadia

Abstract excerpt

Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases...

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PMID: 27726050
DOI: 10.1007/s10048-016-0498-9

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