Benign familial epilepsy of childhood with rolandic spikes
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal dominant BECRS Centrotemporal epilepsy |
| Number of Symptoms | 3 |
| OrphanetNr: | 1945 |
| OMIM Id: |
117100
245570 |
| ICD-10: |
G40.0 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
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: |
Familial partial epilepsy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0007334) | Bilateral convulsive seizures | 6 / 7739 | ||||
|
|
(HPO:0012557) | EEG with centrotemporal focal spike waves | 2 / 7739 | ||||
|
|
(HPO:0003745) | Sporadic | 131 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|