epilepsy, idiopathic generalized, susceptibility to, 9
Findings
No curated finding names epilepsy, idiopathic generalized, susceptibility to, 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011892), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Intermediate young adult onset · Late young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- DysarthriaHPOHP:0001260
- 3 of 11 reported patients
- Postural instabilityHPOHP:0002172
- 3 of 11 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 11 reported patients
- Episodic ataxiaHPOHP:0002131
- 2 of 11 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 11 reported patients
- Paroxysmal vertigoHPOHP:0010532
- 2 of 11 reported patients
- Atypical absence seizureHPO
Show the remaining 5
- NystagmusHPOHP:0000639
- 1 of 11 reported patients
- Truncal ataxiaHPOHP:0002078
- 1 of 11 reported patients
- Typical absence seizureHPOHP:0011147
- 1 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 11 reported patients
- EEG with polyspike wave complexesHPOHP:0002392
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.
- CACNB4HGNC:1404
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
5 names
Resolves to: epilepsy, idiopathic generalized, susceptibility to, 9
- Also called
- CACNB4 generalised epilepsyCACNB4 generalized epilepsyepilepsy, idiopathic generalized, susceptibility to, type 9generalised epilepsy caused by mutation in CACNB4generalized epilepsy caused by mutation in CACNB4