Myoclonic epilepsy, juvenile, susceptibility to, 4

Preferred Label : Myoclonic epilepsy, juvenile, susceptibility to, 4;

Symbol : EJM4;

CISMeF acronym : EJM4;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see 254770. JME is a form of idiopathic generalized epilepsy (IGE; 600669).;

Inheritance : Autosomal dominant;

Prefixed ID : %611364;

Details

Origin ID

611364;

UMLS CUI

C1969656;

Automatic exact mappings (from CISMeF team)
- calcium voltage-gated channel auxiliary subunit beta 4 [ORDO Gene]
- calcium voltage-gated channel auxiliary subunit beta 4 [HGNC gene]
- juvenile myoclonic epilepsy 4 [DO Concept]
DO Cross reference
- juvenile myoclonic epilepsy 4 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- EEG with polyspike wave complexes [HPO term]
- Generalized myoclonic seizure [HPO term]
Not associated HPO term(s)
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
ORDO concept(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- juvenile myoclonic epilepsy [DO Concept]

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