Although PRRT2 was identified as the causative gene of PKD, its function remains unclear. Antiepileptic agents are effective for treating PKD, but these only alleviate the severity of attacks, and thus, long-term administration is required. In addition, a subset of patients lacks mutations in the PRRT2 gene. Furthermore, PRRT2 was identified in 2011 as a causative gene of migraine and benign familial infantile spasm, indicating that these diseases share a common component in the mechanisms leading to their onset. If so, it is important to obtain detailed information, such as on the therapy outcomes and whether or not these diseases can be treated by the same therapy. We aim to characterize PKD on the basis of epidemiological, symptomatological, and molecular genetic findings obtained from the above clinical studies.

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