Febrile Seizures, Familial, 3A

Preferred Label : Febrile Seizures, Familial, 3A;

NCIt synonyms : FEB3A;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome.;

Details

Origin ID

C176016;

UMLS CUI

C2751756;

Automatic exact mappings (from CISMeF team)
- Generalized epilepsy with febrile seizures plus, type 2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- febrile convulsions, familial, 3a [MeSH Supplementary Concept]
- febrile convulsions, familial, 3a [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- febrile convulsions, familial, 3a [MeSH Supplementary Concept]
- febrile convulsions, familial, 3a [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SCN1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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