infantile convulsions and choreoathetosis
Findings
No curated finding names infantile convulsions and choreoathetosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Definition from the Mondo Disease Ontology (MONDO:0011178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Paroxysmal dystoniaHPOHP:0002268
- 23 of 24 reported patients
- Focal sensory seizureHPOHP:0011157
- 10 of 24 reported patients
- Paroxysmal choreoathetosisHPOHP:0007098
- 10 of 24 reported patients
- Infantile spasmsHPOHP:0012469
- 4 of 24 reported patients
- Neurodevelopmental abnormalityHPOHP:0012759
- 0 of 24 reported patients
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.
- PRRT2HGNC:30500
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: infantile convulsions and choreoathetosis
- Also called
- ICCA syndromeparoxysmal kinesigenic dyskinesia and infantile convulsionsPKD/IC