PRRT2 Mutations are the major cause of benign familial infantile seizures

Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama, Georg F. Hoffmann, Karin Jurkat-Rott, Anna Kaisa Anttonen, Gerhard Kurlemann, Anna Elina Lehesjoki, Frank Lehmann-Horn, Massimo Mastrangelo, Ulrike Mause, Stephan Müller, Bernd NeubauerBurkhard Püst, Dietz Rating, Angela Robbiano, Susanne Ruf, Christopher Schroeder, Andreas Seidel, Nicola Specchio, Ulrich Stephani, Pasquale Striano, Jens Teichler, Dilsad Turkdogan, Federico Vigevano, Maurizio Viri, Peter Bauer, Federico Zara, Holger Lerche, Yvonne G. Weber

Research output: Contribution to journalArticlepeer-review


Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone.

Original languageEnglish
Pages (from-to)1439-1443
Number of pages5
JournalHuman Mutation
Issue number10
Publication statusPublished - Oct 2012


  • Choreoathetosis
  • Epilepsy
  • PRRT2
  • Synaptic vesicle

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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