generalized epilepsy with febrile seizures plus, type 12
MONDO:0958324Mondo
Findings
No curated finding names generalized epilepsy with febrile seizures plus, type 12 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
- 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.
- Generalized-onset seizureHPOHP:0002197
- 11 of 11 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 23 of 33 reported patients
- Focal-onset seizureHPOHP:0007359
- 7 of 34 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 3 of 34 reported patients
- Generalized myoclonic-atonic seizureHPOHP:0011170
- 2 of 34 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 34 reported patients
- Paroxysmal dyskinesiaHPOHP:0007166
- 1 of 34 reported patients
- Sudden unexpected death in epilepsyHPOHP:0033258
- 1 of 34 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.
- SLC32A1HGNC:11018
- Strong · PanelApp Australia · Autosomal dominant · 2025