Epilepsy, idiopathic generalized, susceptibility to, 11

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 11;

Symbol : EIG11;

CISMeF acronym : EIG11; EJA2; EJM8;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epilepsy, juvenile myoclonic, susceptibility to, 8; Epilepsy, juvenile absence, susceptibility to, 2; EJM8; EJA2;

Description : Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG). For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG (600669), EJM (254770), and EJA (607631).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel-2 gene (CLCN2, 600570.0001);

Prefixed ID : #607628;

Details

Origin ID

607628;

UMLS CUI

C2750893;

Currated CISMeF NLP mapping
- idiopathic generalized epilepsy 11 [DO Concept]
DO Cross reference
- idiopathic generalized epilepsy 11 [DO Concept]
Genes related to phenotype
- Chloride channel 2 [OMIM gene]
HPO term(s)
- Absence seizures may occur [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure on awakening [HPO term]
- Epilepsy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Myoclonic seizures may occur [HPO term]
ORDO concept(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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