seizures, benign familial infantile, 2
MONDO:0011593Mondo
Findings
No curated finding names seizures, benign familial infantile, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Infantile 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 46 of 60 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 21 of 60 reported patients
- MigraineHPOHP:0002076
- 6 of 67 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 60 reported patients
- Neurodevelopmental abnormalityHPOHP:0012759
- 0 of 67 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
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: seizures, benign familial infantile, 2
- Also called
- seizures, benign familial infantile, type 2