benign familial infantile epilepsy
Findings
No curated finding names benign familial infantile epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Definition from the Mondo Disease Ontology (MONDO:0017615), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Neonatal seizureHPOHP:0032807
- Very frequent (80% to 99% of cases)
- Normal interictal EEGHPOHP:0002372
- Very frequent (80% to 99% of cases)
- ApneaHPOHP:0002104
- Frequent (30% to 79% of cases)
- AthetosisHPOHP:0002305
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Focal clonic seizureHPOHP:0002266
- Frequent (30% to 79% of cases)
- Focal impaired awareness autonomic seizureHPOHP:0032755
- Frequent (30% to 79% of cases)
- Focal impaired awareness seizureHPOHP:0002384
- Frequent (30% to 79% of cases)
- Focal motor seizureHPOHP:0011153
- Frequent (30% to 79% of cases)
Reported absent (2)
- Brain imaging abnormalityHPOHP:0410263
- Psychomotor deteriorationHPOHP:0002361
Show the remaining 20
- Focal tonic seizureHPOHP:0011167
- Frequent (30% to 79% of cases)
- Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
- Generalized clonic seizureHPOHP:0011169
- Frequent (30% to 79% of cases)
- Generalized tonic seizureHPOHP:0010818
- Frequent (30% to 79% of cases)
- Involuntary movementsHPOHP:0004305
- Frequent (30% to 79% of cases)
- Paroxysmal dyskinesiaHPOHP:0007166
- Frequent (30% to 79% of cases)
Genes
6 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.
- KCNQ2HGNC:6296
- Supportive · Orphanet · Autosomal dominant · 2021
- KCNQ3HGNC:6297
- Supportive · Orphanet · Autosomal dominant · 2021
- PRRT2HGNC:30500
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN2AHGNC:10588
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN8AHGNC:10596
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: benign familial infantile epilepsy
- Also called
- benign familial infantile convulsionsbenign familial infantile seizuresBFIEBFISseizures, benign familial infantile