Ahcim. Alternating Hemplegia of Childhood and ATP1A3 disorders
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Objective: We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation. Methods: We identified 16 new patients with alternating hemiplegia of childhood (AHC) and...
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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlationsvia
academiccommons.columbia
Background: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). Case...
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David Goldstein is an American human geneticist. He trained in theoretical population genetics at Stanford University (PhD 1994), where he worked with Marcus Feldman and Luca Cavalli Sforza. Goldste...
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AHC International Media - Alternating Hemplegia of Childhood and ATP1A3 disorders
Alternating Hemplegia of Childhood and ATP1A3 disorders
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Published on Dec 6, 2012 Sunna Valdis was born in February 2006 and suffers from Alternating Hemiplegia of Childhood (AHC) AHC is a very rare disease that causes hemiplegia (paralyzes) on one or both...
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