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

ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype.

Parkinsonism & related disorders - 1 Sept 2020

Chouksey Anjali, Pandey Sanjay

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cerebellar Ataxia
Share to Dystonia
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Optic Atrophy

Share to Reflex, Abnormal

Share to Sodium-Potassium-Exchanging ATPase

Source

Identifiers

PMID: 32576493
DOI: 10.1016/j.parkreldis.2020.05.029

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

ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype.PMID 32576493Read ↗

Clinical spectrum of disease associated with ATP1A3 mutationsSemantic proximity Read ↗

ATP1A3-related disorders: An update.Semantic proximity Read ↗

[A novel variation in ATP1A3 gene in a child with CAPOS syndrome].Semantic proximity Read ↗

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.Semantic proximity Read ↗

A novel presentation of an ATP1A3 gene mutation - case report and literature review.Semantic proximity Read ↗

A novel ATP1A3 mutation with unique clinical presentation.Semantic proximity Read ↗

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

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.Semantic proximity Read ↗

A case of Hailey-Hailey disease with novel ATP2C1 gene variant (c.G925C) showing unusual phenotype.Semantic proximity Read ↗

[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].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 ↗

ATP1A3-related neurological disorders and cerebellar ataxia in childhood.Semantic proximity Read ↗

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