Febrile seizures, familial, 8

Preferred Label : Febrile seizures, familial, 8;

Symbol : FEB8;

CISMeF acronym : ECA2; FEB8;

Type : Phenotype, molecular basis known;

Included titles and symbols : ECA2; Gefs , type 3; Epilepsy, childhood absence, susceptibility to, 2; GEFS 3; GEFSP3; Generalized epilepsy with febrile seizures plus, type 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (GABRG2, 137164.0001);

Prefixed ID : #607681;

Details

Origin ID

607681;

UMLS CUI

C1969810;

Broader ORDO disease(s)
- Childhood absence epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- familial febrile seizures 8 [DO Concept]
- febrile convulsions, familial, 8 [MeSH Supplementary Concept]
- febrile convulsions, familial, 8 [MeSH concept]
DO Cross reference
- familial febrile seizures 8 [DO Concept]
False automatic mappings
- angiotensin converting enzyme 2 [COVID-19 Thesaurus concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, gamma-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- EEG with polyspike wave complexes [HPO term]
- EEG with spike-wave complexes (>3.5 Hz) [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Generalized tonic-clonic seizures (often develop in adolescence) [HPO term]
- Heterogeneous [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Childhood absence epilepsy [ORDO Disease]
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- febrile convulsions, familial, 8 [MeSH concept]
- febrile convulsions, familial, 8 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- generalized epilepsy with febrile seizures plus, type 3 [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus, type 3 [MeSH concept]
Validated automatic mappings to NTBT
- Childhood absence epilepsy [ORDO Disease]

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