Epilepsy, familial temporal lobe, 5

Preferred Label : Epilepsy, familial temporal lobe, 5;

Symbol : ETL5;

CISMeF acronym : ETL5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive (in 1 patient);

Molecular basis : Caused by mutation in the carboxypeptidase A6 gene (CPA6, 609562.0002);

Prefixed ID : #614417;

Details

Origin ID

614417;

UMLS CUI

C3280730;

Automatic exact mappings (from CISMeF team)
- CPA6 wt Allele [NCIt concept]
- Familial mesial temporal lobe epilepsy with febrile seizures [ORDO Disease]
Currated CISMeF NLP mapping
- familial temporal lobe epilepsy 5 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 5 [DO Concept]
Genes related to phenotype
- Carboxypeptidase a6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- EEG with spike-wave complexes [HPO term]
- Focal aware seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Visually-induced seizure [HPO term]
ORDO concept(s)
- Benign familial mesial temporal lobe epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial temporal lobe epilepsy 5 [DO Concept]

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