Epilepsy, idiopathic generalized, susceptibility to, 13

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 13;

Symbol : EIG13;

CISMeF acronym : ECA4; EIG13; EJM5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epilepsy, juvenile myoclonic, susceptibility to, 5; Epilepsy, childhood absence, susceptibility to, 4; EJM5; ECA4;

Description : For a phenotypic description and discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669).;

Prefixed ID : #611136;

Details

Origin ID

611136;

UMLS CUI

C4013473;

Currated CISMeF NLP mapping
- idiopathic generalized epilepsy 13 [DO Concept]
DO Cross reference
- idiopathic generalized epilepsy 13 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, alpha-1 [OMIM gene]
ORDO concept(s)
- Childhood absence epilepsy [ORDO Disease]
- Juvenile myoclonic epilepsy [ORDO Disease]
See also inter- (CISMeF)
- gamma-aminobutyric acid type A receptor subunit alpha1 [ORDO Gene]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to BTNT
- epilepsy, childhood absence, susceptibility to, 4 [MeSH concept]
- epilepsy, childhood absence, susceptibility to, 4 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Childhood absence epilepsy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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