Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

Ilenia Maini, Alessandro Iodice, Carlotta Spagnoli, Grazia Gabriella Salerno, Gianna Bertani, Daniele Frattini, Carlo Fusco

Research output: Contribution to journalArticlepeer-review


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. Clinical report 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. Discussion 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.

Original languageEnglish
Pages (from-to)454-456
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Issue number3
Publication statusPublished - May 1 2016
Externally publishedYes


  • Benign familial infantile epilepsy
  • Benign myoclonus of early infancy
  • Movement disorders
  • Paroxysmal kinesigenic dyskinesia
  • PRRT2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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