title: Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
abstract: BACKGROUND
  Mutations in the gene PRRT2 have been identified in a variety of early-onset paroxysmal disorders. To date associations between PRRT2 mutations and benign myoclonus of early infancy have not been reported.
  
  
  METHODS
  We describe a baby affected by PRRT2 mutation and benign infantile epilepsy, with an episode of focal status epilepticus. During follow-up he developed benign myoclonus of early infancy.
  
  
  CONCLUSIONS
  We hypothesize a pathogenic role of PRRT2 mutation in inducing benign myoclonus of early infancy, similarly to that at the origin of other PRRT2-related paroxysmal movement disorders, such as paroxysmal kinesigenic dyskinesia.
  
  
  CONCLUSIONS
  Currently the function of PRRT2 is poorly understood, even if a marked pleiotropy and variable penetrance of its mutations are well known. Our case concurs in expanding the broad clinical spectrum of PRRT2-related disorders.
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy. Electronic address: ilenia.maini@gmail.com.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Maini
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Iodice
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Carlotta
authors.initials: C
authors.lastname: Spagnoli
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Grazia Gabriella
authors.initials: GG
authors.lastname: Salerno
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Gianna
authors.initials: G
authors.lastname: Bertani
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.affiliation: Child Neuropsychiatry Unit, IRCCS, ASMN, Reggio Emilia, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
mesh_terms: D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Benign familial infantile epilepsy; Benign myoclonus of early infancy; Movement disorders; PRRT2; Paroxysmal kinesigenic dyskinesia