| Disease ID | Source | Name | Description |
| 618924 | OMIM | Episodic ataxia 9 (EA9) | An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. The disease is caused by variants affecting the gene represented in this entry. |
| 607745 | OMIM | Seizures, benign familial infantile, 3 (BFIS3) | A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 613721 | OMIM | Developmental and epileptic encephalopathy 11 (DEE11) | An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. The disease is caused by variants affecting the gene represented in this entry. |