EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ECA5 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
612269
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0002121) | Absence seizures | 62 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Tanaka et al. (2008) reported 4 unrelated families of Mexican or Honduran origin with childhood absence epilepsy inherited in an autosomal dominant pattern with incomplete penetrance. Age at onset ranged from 2 to 11 years and was characterized ... |
| Molecular genetics OMIM |
Urak et al. (2006) screened 45 childhood absence epilepsy (CAE) patients for sequence variations in the GABRB3 gene. The authors defined 4 haplotypes between the promoter region and intron 3. A transmission disequilibrium test demonstrated significant association of ... |