Epilepsy, idiopathic generalized, susceptibility to, 9

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 9;

Symbol : EIG9;

CISMeF acronym : EIG9; EJM6;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epilepsy, juvenile myoclonic, susceptibility to, 6; EJM6;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see 254770 for a general phenotypic description and a discussion of genetic heterogeneity of JME.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the voltage-gated calcium channel beta-4 subunit gene (CACNB4, 601949.0001).;

Prefixed ID : #607682;

Détails

Origin ID

607682;

UMLS CUI

C2750887;

Currated CISMeF NLP mapping
- idiopathic generalized epilepsy 9 [DO Concept]
DO Cross reference
- idiopathic generalized epilepsy 9 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, beta-4 subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure on awakening [HPO term]
- EEG with polyspike wave complexes [HPO term]
- Epilepsy [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Generalized tonic-clonic seizures (often develop in adolescence) [HPO term]
- Heterogeneous [HPO term]
- Juvenile onset [HPO term]
- Morning generalized tonic-clonic seizures [HPO term]
- Morning myoclonic jerks [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
See also inter- (CISMeF)
- chloride voltage-gated channel 2 [ORDO Gene]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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