Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review-Reference-Cited by-同舟云学术

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

Published:2021-08-02 Issue:9 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Biela Mateusz¹^ORCID,Rydzanicz Malgorzata²^ORCID,Szymanska Krystyna³,Pieniawska‐Smiech Karolina⁴,Lewandowicz‐Uszynska Aleksandra⁵,Chruszcz Joanna⁶,Benben Lucyna⁷,Kuzior‐Plawiak Malgorzata⁷,Szyld Pawel⁸,Jakubiak Aleksandra¹,Szenborn Leszek⁶^ORCID,Ploski Rafal²^ORCID,Smigiel Robert¹^ORCID

Affiliation:

1. Department of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wrocław Poland

2. Department of Medical Genetics Medical University of Warsaw Warsaw Poland

3. Department of Experimental and Clinical Neuropathology Mossakowski Medical Research Centre Polish Academy of Sciences Warsaw Poland

4. Department of Clinical Immunology Wroclaw Medical University Wroclaw Poland

5. Third Department and Clinic of Pediatrics, Immunology and Rheumatology of Developmental Age Wroclaw Medical University Wroclaw Poland

6. Department of Paediatrics and Infectious Diseases Wroclaw Medical University Wroclaw Poland

7. Department of Paediatric Neurology J. Gromkowski Regional Specialist Hospital Wrocław Poland

8. Cancer Genetics Unit Cancer Prevention Department The Maria Sklodowska‐Curie National Research Institute of Oncology Warsaw Poland

Funder

Ministerstwo Nauki i Szkolnictwa Wyższego

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1772

Reference19 articles.

1. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain

2. ATP1A3mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

3. Relapsing encephalopathy with cerebellar ataxia related to anATP1A3mutation

4. Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations

5. Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism

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