First, a questionnaire was sent to 4,650 neurology specialists and 1,002 pediatric neurology specialists in Japan. Among the 5,652 specialists, 2,484 (43.9%) returned a signed questionnaire. The response rate in the neurology specialists was 35.5% (1,655/4,650), while that in the pediatric neurology specialists was 48% (482[[Please confirm. Both 481 and 482 were in the original text.]]/1002). We are currently analyzing the questionnaire results in detail. So far, the higher than expected response rates suggest considerable interest in the molecular mechanisms of PKD with the aim of developing an effective treatment.

Ono S, Yoshiura KI, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N, Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions, J Hum Genet,57(5), 338-41, Mar 8 2012.
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Analysis of the molecular mechanisms of paroxysmal kinesigenic dyskinesia with the aim of developing
an effective drug for its treatment

Naohiro Kurotaki（Project leader）
Copyright(C) Department of Neuropsychiatry, Unit of Translational Medicine Nagasaki University Graduate School of Biomedical Sciences All Rights Reserved.