Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.L757P
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ATP1A3

NM_152296.5:p.L757P

Associated Papers

Alternating hemiplegia of childhood misdiagnosed as hysteria: a case report.

Wei D et al.

Acta Epileptologica, 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

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Capuano A et al.

The Application of Clinical Genetics, 2020

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.

Polanowska KE et al.

Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2018

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

Jaffer F et al.

Neurology. Genetics, 2017

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Smedemark-Margulies N et al.

Cold Spring Harbor Molecular Case Studies, 2016

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dard R et al.

Developmental Medicine and Child Neurology, 2015

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Sweney MT et al.

Pediatric Neurology, 2015

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Termsarasab P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H et al.

Neurology, 2014

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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."