title: Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.
abstract: BACKGROUND
  Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC).
  
  
  METHODS
  A previously not recognized intronic PRRT2 mutation (c.880-35G > A; p.S294Lfs*29) was found in an 18 month old girl with IC and in her mother with classical presentation of PKD. The mutation results in a novel splice acceptor site in intron 2 of PRRT2. Due to frameshift and a subsequent premature stop-codon the resulting transcript appears to render the PRRT2 protein non/dysfunctional and is the likely cause of disease in this family.
  
  
  CONCLUSIONS
  Our findings expand the mutational spectrum of this disease.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität Gießen, Gießen, Germany. axel.weber@humangenetik.med.uni-giessen.de.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.affiliation: Abteilung für Neuropädiatrie, Klinik für Kinder und Jugendliche, Klinikum Leverkusen gGmbH, Leverkusen, Germany. jonas.kreth@klinikum-lev.de.
authors.forename: Jonas
authors.initials: J
authors.lastname: Kreth
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität Gießen, Gießen, Germany. Ulrich.Mueller@humangenetik.med.uni-giessen.de.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D020820:Dyskinesias / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D022821:RNA Splice Sites; D012640:Seizures / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human; D022821:RNA Splice Sites