title: PRRT2 mutations are the major cause of benign familial infantile seizures.
abstract: 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.
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors.forename: Julian
authors.initials: J
authors.lastname: Schubert
authors.forename: Roberta
authors.initials: R
authors.lastname: Paravidino
authors.forename: Felicitas
authors.initials: F
authors.lastname: Becker
authors.forename: Andrea
authors.initials: A
authors.lastname: Berger
authors.forename: Nerses
authors.initials: N
authors.lastname: Bebek
authors.forename: Amedeo
authors.initials: A
authors.lastname: Bianchi
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.forename: Bernardo
authors.initials: B
authors.lastname: Dalla Bernardina
authors.forename: Yukio
authors.initials: Y
authors.lastname: Fukuyama
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Karin
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Anttonen
authors.forename: Gerhard
authors.initials: G
authors.lastname: Kurlemann
authors.forename: Anna-Elina
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: Frank
authors.initials: F
authors.lastname: Lehmann-Horn
authors.forename: Massimo
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Ulrike
authors.initials: U
authors.lastname: Mause
authors.forename: Stephan
authors.initials: S
authors.lastname: Müller
authors.forename: Bernd
authors.initials: B
authors.lastname: Neubauer
authors.forename: Burkhard
authors.initials: B
authors.lastname: Püst
authors.forename: Dietz
authors.initials: D
authors.lastname: Rating
authors.forename: Angela
authors.initials: A
authors.lastname: Robbiano
authors.forename: Susanne
authors.initials: S
authors.lastname: Ruf
authors.forename: Christopher
authors.initials: C
authors.lastname: Schroeder
authors.forename: Andreas
authors.initials: A
authors.lastname: Seidel
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Jens
authors.initials: J
authors.lastname: Teichler
authors.forename: Dilsad
authors.initials: D
authors.lastname: Turkdogan
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Maurizio
authors.initials: M
authors.lastname: Viri
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Yvonne G
authors.initials: YG
authors.lastname: Weber
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human