Generalized epilepsy with febrile seizures-plus context
General Information (adopted from Orphanet):
Synonyms, Signs: |
GEFS+ |
Number of Symptoms | 6 |
OrphanetNr: | 36387 |
OMIM Id: |
604233
604403 609800 611277 612279 613060 613828 613863 |
ICD-10: |
G40.3 |
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 [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Adolescent-onset epilepsy syndrome
-Rare genetic disease -Rare neurologic disease Childhood-onset epilepsy syndrome -Rare genetic disease -Rare neurologic disease Familial partial epilepsy -Rare genetic disease -Rare neurologic disease Infantile epilepsy syndrome -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002121) | Absence seizures | 62 / 7739 | ||||
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(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
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(HPO:0002373) | Febrile seizures | 37 / 7739 | ||||
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(HPO:0010819) | Atonic seizures | 18 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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