关键词: 发作性运动诱发性运动障碍, 癫痫, 诊断, 鉴别, 卡马西平, PRRT2蛋白

Abstract: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological condition in which brief and frequent dyskinetic attacks are provoked by sudden movement. PKD is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. The pathophysiology of PKD is uncertain but it could be an ion-channel disorder. Genetic linkage studies have isolated several loci on chromosome 16, and proline-rich transmembrane protein 2 (PRRT2) has been identified as a causative gene of PKD by using a combination of exome sequencing and linkage analysis. Antiepileptic drugs, particularly, carbamazepine are very helpful in a large proportion of cases. Sometimes it can be difficult to distinguish this syndrome from epilepsy. We reported 2 patients who presented abnormal involuntary attack. Evaluations included general physical examinations, endocrinologic and metabolic studies, video electroencephalograms and brain MRI imaging. All of these studies were normal. All of symptoms showed excellent response to carbamazepine.

Key words: Episodic kinesigenic dyskinesia, Epilepsy, Diagnosis, differential, Carbamazepine, PRRT2 protein, human