Article
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Molecular genetics & genomic medicine - 1 Sept 2021
Biela Mateusz, Rydzanicz Malgorzata, Szymanska Krystyna, Pieniawska-Smiech Karolina, Lewandowicz-Uszynska Aleksandra, Chruszcz Joanna, Benben Lucyna, Kuzior-Plawiak Malgorzata, Szyld Pawel, Jakubiak Aleksandra, Szenborn Leszek, Ploski Rafal, Smigiel Robert
Abstract excerpt
BACKGROUND: Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype-phenotype correlations in the ATP1A3 variants, and a separate phenotype...
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