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

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, th...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457706/
https://www.ncbi.nlm.nih.gov/pubmed/34342181
http://dx.doi.org/10.1002/mgg3.1772

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457706/
https://www.ncbi.nlm.nih.gov/pubmed/34342181
http://dx.doi.org/10.1002/mgg3.1772

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