Sterile alpha motif domain-containing protein 12
Involvement in disease
Epilepsy, familial adult myoclonic, 1
FAME1
A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in the brain.
Alternative names
Sterile alpha motif domain-containing protein 12, SAM domain-containing protein 12, SAMD12