title: Unusual variability of PRRT2 linked phenotypes within a family.
abstract: BACKGROUND
  Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).
  
  
  OBJECTIVE
  Here, we describe a family with four affected members. They all suffer from different diseases: febrile convulsion, epileptic seizures, PKD or headache.
  
  
  METHODS
  The whole coding region of PRRT2 gene has been analyzed.
  
  
  RESULTS
  Molecular testing revealed the PRRT2 gene mutation c649.delC in exon 2 for all three sibs as well as for the mother.
  
  
  CONCLUSIONS
  Our presented family case shows the great variability within PRRT2 linked phenotypes even within the same family. Further and more detailed studies will be needed before genetic findings enter into the daily diagnostic and the daily genetic counseling with all its consequences.
authors.affiliation: Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany. Electronic address: friederbrueckner@gmail.com.
authors.forename: Frieder
authors.initials: F
authors.lastname: Brueckner
authors.affiliation: Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Kohl
authors.affiliation: Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Puest
authors.affiliation: Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
authors.forename: Silke
authors.initials: S
authors.lastname: Gassner
authors.affiliation: Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany.
authors.forename: Judith
authors.initials: J
authors.lastname: Osseforth
authors.affiliation: Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Lindenau
authors.affiliation: Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Stodieck
authors.affiliation: Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002819:Chorea / Q000150:complications / Q000235:genetics*; D020820:Dyskinesias / Q000150:complications / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D012640:Seizures / Q000150:complications / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Asymptomatic mutation carrier; Benign infantile familial convulsions; Mutation; PRRT2; Paroxysmal kinesigenic dyskinesias; Phenotype