epilepsy, familial focal, with variable foci 4
MONDO:0054776Mondo
Findings
No curated finding names epilepsy, familial focal, with variable foci 4 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
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Small faceHPOHP:0000274
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- Borderline intellectual disabilityHPOHP:0006889
- 1 of 4 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 4 reported patients
- Simple febrile seizureHPOHP:0011171
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 5 reported patients
Show the remaining 1
- MicrocephalyHPOHP:0000252
- 1 of 5 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.
- SCN3AHGNC:10590
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2016