Epilepsy, familial temporal lobe, 8

Preferred Label : Epilepsy, familial temporal lobe, 8;

Symbol : ETL8;

CISMeF acronym : ETL8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the galanin gene (GAL, 137035.0001);

Prefixed ID : #616461;

Details

Origin ID

616461;

UMLS CUI

C4225318;

Automatic exact mappings (from CISMeF team)
- GAL wt Allele [NCIt concept]
CISMeF manual mappings
- familial temporal lobe epilepsy 8 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 8 [DO Concept]
Genes related to phenotype
- Galanin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Deja vu aura [HPO term]
- Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena [HPO term]
- Focal aware cognitive seizure with forced thinking [HPO term]
- Focal aware sensory seizure with auditory features [HPO term]
- Focal impaired awareness seizure [HPO term]
- Juvenile onset [HPO term]
ORDO concept(s)
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial temporal lobe epilepsy 8 [DO Concept]

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