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

Topics Community

Article

ATP1A3-related disorders: An update.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Carecchio Miryam, Zorzi Giovanna, Ragona Francesca, Zibordi Federica, Nardocci Nardo

Abstract excerpt

Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients...

Topics

Cerebellar Ataxia
Child, Preschool
Dystonic Disorders
Female
Foot Deformities, Congenital
Genetic Association Studies
Hearing Loss, Sensorineural
Hemiplegia
Humans
Mutation
Optic Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Reflex, Abnormal

Sodium-Potassium-Exchanging ATPase

Source

Identifiers

PMID: 29291920
DOI: 10.1016/j.ejpn.2017.12.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ATP1A3-related disorders: An update.PMID 29291920Read ↗

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

ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.Semantic proximity Read ↗

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.Semantic proximity Read ↗

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.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 ↗

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Semantic proximity Read ↗

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

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.Semantic proximity Read ↗

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

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

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes.Semantic proximity Read ↗

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

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