EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: ECA2
Number of Symptoms 9
OrphanetNr:
OMIM Id: 607681
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:0010849) EEG with spike-wave complexes (>3.5 Hz) 6 / 7739
2
(HPO:0002121) Absence seizures 62 / 7739
3
(HPO:0002392) EEG with polyspike wave complexes 3 / 7739
4
(HPO:0002373) Febrile seizures 37 / 7739
5
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
6
(HPO:0011463) Childhood onset 65 / 7739
7
(OMIM) EEG shows 3-4-Hz spike and multispike slow wave complexes 2 / 7739
8
(OMIM) Febrile seizures may occur 4 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM It had been suggested for many decades that disruption of GABAergic neurotransmission mediated by gamma-aminobutyric acid (GABA) is involved in epilepsy (Olsen et al., 1999). In a family in which individuals had both childhood absence epilepsy and febrile ...