PRRT2 mutations are the major cause of benign familial infantile seizures.

doi:10.1002/humu.22126

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Article

PRRT2 mutations are the major cause of benign familial infantile seizures.

Human mutation - 1 Oct 2012

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

Abstract excerpt

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...

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Identifiers

PMID: 22623405
DOI: 10.1002/humu.22126

Genes

PRRT2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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