Familial focal epilepsy with variable foci 1
| Disorder | |
|---|---|
| OMIM #: | #604364 (Click to access OMIM database) |
| Disorder: | Familial focal epilepsy with variable foci 1 |
| Also known as: | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI FFEVF EPILEPSY, PARTIAL, WITH VARIABLE FOCI FPEVF |
| Clinical | |
| Phenotype: | focal epilepsy, secondary generalization of seizures, automatisms |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | DEPDC5 |
| Base Change: | C>T, at nucleotide 1453 |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Personal communication; seen at CSC. |
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