Epilepsy, juvenile absence, susceptibility to, 1

Preferred Label : Epilepsy, juvenile absence, susceptibility to, 1;

Symbol : EJA1;

CISMeF acronym : EJA1; JAE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : JAE1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel-2 gene (CLCN2, 600570.0003); Caused by mutation in the EF-hand domain (C-terminal)-containing 1 gene EFHC1, (608815.0006);

Prefixed ID : #607631;

Details

Origin ID

607631;

UMLS CUI

C2750892;

Automatic exact mappings (from CISMeF team)
- Juvenile absence epilepsy [ORDO Disease]
- juvenile absence epilepsy 1 [DO Concept]
DO Cross reference
- juvenile absence epilepsy 1 [DO Concept]
Genes related to phenotype
- Ef-hand domain (C-terminal)-containing protein 1 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure on awakening [HPO term]
- EEG shows 3-4-Hz spike waves [HPO term]
- EEG with spike-wave complexes (>3.5 Hz) [HPO term]
- Epilepsy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
ORDO concept(s)
- Juvenile absence epilepsy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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