alternating hemiplegia of childhood 1
Findings
No curated finding names alternating hemiplegia of childhood 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007087), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Episodic hemiplegiaHPOHP:0012194
- 5 of 5 reported patients
- Episodic quadriplegiaHPOHP:0200072
- 5 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 5 reported patients
- HeadacheHPOHP:0002315
- 0 of 5 reported patients
- ChoreoathetosisHPOHP:0001266
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP1A2HGNC:800
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: alternating hemiplegia of childhood 1
- Also called
- alternating hemiplegia of childhood caused by mutation in ATP1A2alternating hemiplegia of childhood type 1ATP1A2 alternating hemiplegia of childhood