Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Shinji Ono, Koh Ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura, Ayako Yasuda, Maki Komine, Kazuaki Kanai, Takeshi Inoue, Toshio Osamura, Kayoko Saito, Shinichi Hirose, Hiroyoshi Koide, Hiroaki Tomita, Hiroki OzawaNorio Niikawa, Naohiro Kurotaki

Research output: Contribution to journalArticlepeer-review

68 Citations (Scopus)


Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C>T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.

Original languageEnglish
Pages (from-to)338-341
Number of pages4
JournalJournal of Human Genetics
Issue number5
Publication statusPublished - 2012 May


  • PRRT2
  • benign familial infantile convulsion
  • mutation analysis
  • paroxysmal kinesigenic dyskinesia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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