Childhood absence epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: Pyknolepsy
Number of Symptoms 7
OrphanetNr: 64280
OMIM Id: 600131
607681
611942
612269
ICD-10: G40.3
UMLs:
MeSH:
MedDRA:
Snomed: 50866000

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0002373) Febrile seizures 37 / 7739
2
 (HPO:0002392) EEG with polyspike wave complexes 3 / 7739
3
 (HPO:0002121) Absence seizures 62 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0010849) EEG with spike-wave complexes (>3.5 Hz) 6 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: