Familial Focal Epilepsy with Variable Foci 1

Preferred Label : Familial Focal Epilepsy with Variable Foci 1;

NCIt synonyms : FFEVF1;

NCIt definition : An autosomal dominant familial form of epilepsy caused by mutation(s) in the DEPDC5 gene, encoding GATOR complex protein DEPDC5. It is characterized by focal seizures usually arising from the frontal or temporal lobe. The onset of seizures may occur from infancy to adulthood.;

NCI Metathesaurus CUI : CL793024;

Details

Origin ID

C161005;

UMLS CUI

C4551983;

Currated CISMeF NLP mapping
- Epilepsy, familial focal, with variable foci 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, familial focal, with variable foci 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DEPDC5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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