Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.D583Y
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ATP1A3

NM_152296.5:p.D583Y

Associated Papers

Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.

Thamby J et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Smith RS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Salles PA et al.

Frontiers in Neurology, 2021

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.

Tran L et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Nicita F et al.

Parkinsonism & Related Disorders, 2016

Bipolar Disorder in a Young Woman With Preexisting Rapid-Onset Dystonia-Parkinsonism and Successful Treatment With Clozapine and Lithium.

Mereu A et al.

Journal of Clinical Psychopharmacology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."