EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9 EIG3 |
| Number of Symptoms | 8 |
| OrphanetNr: | |
| OMIM Id: |
608762
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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 recessive 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:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002123) | Generalized myoclonic seizures | 62 / 7739 | ||||
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(HPO:0011157) | Auras | 2 / 7739 | ||||
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(HPO:0000992) | Cutaneous photosensitivity | 75 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(OMIM) | EEG shows nonspecific slow-wave paroxysms | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Baykan et al. (2004) reported a consanguineous Turkish family with a possible form of autosomal recessive idiopathic generalized epilepsy. Three of 4 sibs were affected, but their clinical features varied widely: age at onset ranged from 7 to ... |