title: The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.
abstract: OBJECTIVE
  Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia.
  
  
  RESULTS
  Direct sequencing of the coding region identified the PRRT2 mutation c.649dupC in 5/5 families with infantile convulsions. The mutation was present in 23 family members, of which 18 were clinically affected and 2 were obligate carriers. The affected carriers of this mutation presented with different types of epileptic seizures during early childhood but did not develop additional neurological symptoms later in life.
  
  
  CONCLUSIONS
  Our data demonstrate that the PRRT2 mutation c.649dupC is a frequent cause of benign familial infantile convulsions.
authors.affiliation: Institute of Human Genetics, University Hospital, University of Munich, Munich, Germany. Ortrud.Steinlein@med.uni-muenchen.de
authors.forename: Ortrud K
authors.initials: OK
authors.lastname: Steinlein
authors.forename: M
authors.initials: M
authors.lastname: Villain
authors.forename: C
authors.initials: C
authors.lastname: Korenke
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D020820:Dyskinesias / Q000175:diagnosis; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human