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

Genotype–phenotype correlations in alternating hemiplegia of childhood

16 Jan 2014

Abstract excerpt

OBJECTIVE: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC. METHODS: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study. ATP1A3 mutations were analyzed using Sanger sequencing. Detailed clinical...

Read the complete abstract on PubMed

Topics

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

Share to Blood Coagulation and Thrombosis Mechanisms
Share to Ion Transport and Channel Regulation
Share to Platelet Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24431296
DOI: 10.1212/wnl.0000000000000102

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

Genotype–phenotype correlations in alternating hemiplegia of childhoodPMID 24431296Read ↗

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.Semantic proximity Read ↗

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.Semantic proximity Read ↗

Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian PatientsSemantic proximity Read ↗

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.Semantic proximity Read ↗

Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.Semantic proximity Read ↗

Alternating Hemiplegia of Childhood in Korea: a Case Report.Semantic proximity Read ↗

Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.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 ↗

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.Semantic proximity Read ↗

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.Semantic proximity Read ↗

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

Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases.Semantic proximity Read ↗

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