Autosomal Dominant Lateral Temporal Lobe Epilepsy

Preferred Label : Autosomal Dominant Lateral Temporal Lobe Epilepsy;

NCIt synonyms : ETL1; Epilepsy, Familial Temporal Lobe 1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.;

Details

Origin ID

C141441;

UMLS CUI

C4551957;

Automatic exact mappings (from CISMeF team)
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [ORDO Gene]
- Swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 [OMIM gene]
- leucine rich glioma inactivated 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
- Autosomal dominant epilepsy with auditory features [ICD-11 More detail]
- Autosomal dominant epilepsy with auditory features (disorder) [SNOMED CT concept]
- Epilepsy, familial temporal lobe, 1 [OMIM Phenotype]
- autosomal dominant lateral temporal lobe epilepsy [MeSH concept]
- autosomal dominant lateral temporal lobe epilepsy [MeSH Supplementary Concept]
- familial temporal lobe epilepsy 1 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, familial temporal lobe, 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- LGI1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients