episodic kinesigenic dyskinesia 1
MONDO:0100352Mondo
Findings
No curated finding names episodic kinesigenic dyskinesia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 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
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 2 of 32 reported patients
- SeizureHPOHP:0001250
- 0 of 1 reported patient
- Paroxysmal choreoathetosisHPOHP:0007098
Genes
2 genes
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.
Where it sits
Other names
4 names
Resolves to: episodic kinesigenic dyskinesia 1
- Also called
- episodic kinesigenic dyskinesia caused by mutation in PRRT2episodic kinesigenic dyskinesia type 1PRRT2 episodic kinesigenic dyskinesiaPxMD-PRRT2