Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.

Journal of translational medicine - 11 May 2026

Lim Su Min, Kim Suhyun, Park Jinseok, Kim Young-Eun, Na Ok Cho, Nahm Minyeop, Noh Min-Young, Oh Ki-Wook, Ki Chang-Seok, Shin Woong-Hee, Park Hae-Chul, Kim Seung Hyun

Abstract excerpt

BACKGROUND: Mutations in the neuronal Na+/K+-ATPase subunit ATP1A3 are linked to a spectrum of neurological disorders, including rapid-onset dystonia-parkinsonism (RDP), yet their pathogenic mechanisms remain incompletely understood. We describe the complex clinical characteristics of a patient with early-onset movement disorders and a likely pathogenic de novo variant in ATP1A3(c·2438C>T, p.A813V). METHODS: We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium
Share to Dystonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Molecular Dynamics Simulation

Share to Neurons

Share to Parkinsonian Disorders

Share to Sodium-Potassium-Exchanging ATPase

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 42116168
DOI: 10.1186/s12967-026-08203-0
PMCID: PMC13173752

Genes

ATP1A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.PMID 42116168Read ↗

Genetically altered animal models for ATP1A3-related disorders.Semantic proximity Read ↗

Distinct neurological disorders with ATP1A3 mutations.Semantic proximity Read ↗

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.Semantic proximity Read ↗

ATP1A3-Associated Paroxysmal Dystonia.Semantic proximity Read ↗

The Phenotypic Continuum of ATP1A3-Related Disorders.Semantic proximity Read ↗

Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.Semantic proximity Read ↗

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.Semantic proximity Read ↗

The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.Semantic proximity Read ↗

Functional and structural basis of a hypermorphic TRPC3 variant.Semantic proximity Read ↗

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia ParkinsonismSemantic proximity Read ↗

The expanding clinical and genetic spectrum of ATP1A3-related disorders.Semantic proximity Read ↗

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.