| Disease ID | Source | Name | Description |
| 604364 | OMIM | Epilepsy, familial focal, with variable foci 1 (FFEVF1) | An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. The disease is caused by variants affecting the gene represented in this entry. |