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RESEARCH PRODUCT
PRRT2 mutations are the major cause of benign familial infantile seizures.
Massimo MastrangeloYvonne G. WeberKarin Jurkat-rottMaurizio ViriNicola SpecchioPasquale StrianoAndreas SeidelFederico VigevanoYukio FukuyamaStephan MüllerGerhard KurlemannAnna-kaisa AnttonenNerses BebekFederico ZaraFelicitas BeckerPeter BauerHolger LercheHolger LercheGiuseppe CapovillaAngela RobbianoUlrike MauseBurkhard PüstBernardo Dalla BernardinaUlrich StephaniSusanne RufDilsad TurkdoganAmedeo BianchiRoberta ParavidinoKnut BrockmannBernd A. NeubauerGeorg F. HoffmannDietz RatingJens TeichlerJulian SchubertFrank Lehmann-hornAndrea BergerAndrea BergerChristopher SchroederAnna-elina Lehesjokisubject
AdultMaleAdolescentChoreoathetosisNerve Tissue ProteinsBiologymedicine.disease_causeSeizures FebrileInfantile seizures03 medical and health sciencesEpilepsy0302 clinical medicineGeneticsmedicineHumansChildGenetics (clinical)030304 developmental biologyAgedGenetics0303 health sciencesMutationBenign familial infantile epilepsyEpilepsyPRRT2; EpilepsyInfantMembrane ProteinsParoxysmal dyskinesiaMiddle Agedmedicine.diseaseMajor genePedigreeChild PreschoolMutationPRRT2medicine.symptomSpasms Infantile030217 neurology & neurosurgeryPRRT2description
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. Hum Mutat 33:1439–1443, 2012. © 2012 Wiley Periodicals, Inc.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2012-01-01 | Human mutation |