Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Abstract 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. Rece...

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Bibliographic Details
Main Authors: Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ATP1A3
cerebellar ataxia
hypotonia
relapsing encephalopathy
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1772

Internet

https://doi.org/10.1002/mgg3.1772

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