familial temporal lobe epilepsy 5
Findings
No curated finding names familial temporal lobe epilepsy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.
Definition from the Mondo Disease Ontology (MONDO:0013741), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Focal aware seizureHPOHP:0002349
- 3 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- EEG with spike-wave complexesHPOHP:0010850
- 1 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 4 reported patients
- Visually-induced seizureHPOHP:0020216
- 1 of 4 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.
- CPA6HGNC:17245
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: familial temporal lobe epilepsy 5
- Also called
- epilepsy, familial temporal lobe, type 5ETL5familial temporal lobe epilepsy type 5