Epilepsy, familial temporal lobe, 2

Preferred Label : Epilepsy, familial temporal lobe, 2;

Symbol : ETL2;

CISMeF acronym : ETL2; FTLE;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : FTLE;

Description : Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996). For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512).;

Inheritance : Autosomal dominant;

Prefixed ID : %608096;

Details

Origin ID

608096;

UMLS CUI

C4759869;

Broader ORDO disease(s)
- Familial temporal lobe epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- familial temporal lobe epilepsy 2 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Febrile status epilepticus [HPO term]
- Focal aware seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Onset in childhood or early adulthood [HPO term]
ORDO concept(s)
- Familial temporal lobe epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial temporal lobe epilepsy [ORDO Disease]
- Temporal epilepsy, familial [MeSH concept]
- familial temporal lobe epilepsy 2 [DO Concept]
- temporal epilepsy, familial [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Familial temporal lobe epilepsy [ORDO Disease]
- Temporal epilepsy, familial [MeSH concept]
- temporal epilepsy, familial [MeSH Supplementary Concept]

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