Epilepsy, myoclonic juvenile

Preferred Label : Epilepsy, myoclonic juvenile;

Symbol : EJM;

CISMeF acronym : EJM; EJM1; JME;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonic epilepsy, juvenile; Petit mal, impulsive; Janz syndrome; JME;

Included titles and symbols : Myoclonic epilepsy, juvenile, susceptibility to, 1; EJM1;

Description : Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997). - Genetic Heterogeneity of Juvenile Myoclonic Seizures Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34-q35; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q22-q23; EJM7 (see 613060), by variation in the GABRD gene (137163) on 1p36; and EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q26. In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the EF-hand domain (C-terminal)-containing protein 1 gene (EFHC1, 608815.0001);

Prefixed ID : #254770;

Details

Origin ID

254770;

UMLS CUI

C0270853;

Currated CISMeF NLP mapping
- Juvenile Myoclonic Epilepsy [NCIt concept]
- Juvenile myoclonic epilepsy [MedDRA Preferred Term]
- Juvenile myoclonic epilepsy [ORDO Disease]
- Juvenile myoclonic epilepsy (disorder) [SNOMED CT concept]
- juvenile myoclonic epilepsy [DO Concept]
- juvenile myoclonic epilepsy [Disease (Nov.)]
- juvenile myoclonic epilepsy [SNOMED Notion]
- myoclonic epilepsy, juvenile [MeSH Descriptor]
- myoclonic epilepsy, juvenile [MeSH concept]
DO Cross reference
- juvenile myoclonic epilepsy [DO Concept]
Genes related to phenotype
- Ef-hand domain (C-terminal)-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- EEG with generalized polyspikes [HPO term]
- Epilepsy [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Morning myoclonic jerks [HPO term]
- Status epilepticus [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile Myoclonic Epilepsy [NCIt concept]
- Juvenile myoclonic epilepsy [MedDRA Preferred Term]
- Juvenile myoclonic epilepsy [ORDO Disease]
- Juvenile myoclonic epilepsy (disorder) [SNOMED CT concept]
- juvenile myoclonic epilepsy [SNOMED Notion]
- juvenile myoclonic epilepsy [DO Concept]
- juvenile myoclonic epilepsy [Disease (Nov.)]
- myoclonic epilepsy, juvenile [MeSH Descriptor]
- myoclonic epilepsy, juvenile [MeSH concept]

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