EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ECA1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 600131
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0002121) Absence seizures 62 / 7739
3
(OMIM) EEG shows 3-4-Hz spike and multispike slow wave complexes 2 / 7739
4
(OMIM) Febrile seizures may occur 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge ...
Clinical Description OMIM Childhood absence epilepsy accounts for 5 to 15% of childhood epilepsies (Fong et al., 1998).

Manifestations begin at age 6-7 years, in contrast to juvenile absence epilepsy (JAE; 607631), which begins around puberty. The main features ...

Molecular genetics OMIM - Exclusion Studies

In 2 families with childhood absence epilepsy mapping to 8q24, Morita et al. (1999) did not identify mutations in the JRK gene (603210).
Population genetics OMIM Overall, the annual incidence of childhood absence epilepsy is 2 to 8 per 100,000 children under the age of 15 to 16 years, with a prevalence of 2 to 10% among children with any type of epilepsy (Crunelli ...