Juvenile absence epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: EJA1
JAE
JAE1
Number of Symptoms 9
OrphanetNr: 1941
OMIM Id: 607631
ICD-10: G40.3
UMLs: C2930918
MeSH: C535495
MedDRA:
Snomed: 230413002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Multifactorial
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
 (HPO:0010849) EEG with spike-wave complexes (>3.5 Hz) 6 / 7739
3
 (HPO:0002121) Absence seizures 62 / 7739
4
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
 (HPO:0007193) Generalized tonic-clonic seizures on awakening 3 / 7739
6
 (OMIM) Onset around puberty 2 / 7739
7
 (OMIM) GTCS on awakening 1 / 7739
8
 (OMIM) EEG shows 3-4-Hz spike waves 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see 600669). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; 600131), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures ...
Molecular genetics OMIM Stogmann et al. (2006) identified mutations in the EFHC1 gene (see, e.g., 608815.0006; 608825.0007) in patients with juvenile absence epilepsy.