| Disease ID | Source | Name | Description |
| 605751 | OMIM | Seizures, benign familial infantile, 2 (BFIS2) | 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. BFIS2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 602066 | OMIM | Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) | A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. The disease is caused by variants affecting the gene represented in this entry. |
| 128200 | OMIM | Episodic kinesigenic dyskinesia 1 (EKD1) | An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytoplasm (PubMed:22101681). |