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 journalArticle

7 Citations (Scopus)

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. 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
Volume20
Issue number3
DOIs
Publication statusPublished - May 1 2016
Externally publishedYes

Fingerprint

Myoclonic Epilepsy
Myoclonus
Phenotype
Mutation
Genes
Penetrance
Status Epilepticus
Movement Disorders
Epilepsy

Keywords

  • 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

Cite this

Expanding phenotype of PRRT2 gene mutations : A new case with epilepsy and benign myoclonus of early infancy. / Maini, Ilenia; Iodice, Alessandro; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Bertani, Gianna; Frattini, Daniele; Fusco, Carlo.

In: European Journal of Paediatric Neurology, Vol. 20, No. 3, 01.05.2016, p. 454-456.

Research output: Contribution to journalArticle

Maini, Ilenia ; Iodice, Alessandro ; Spagnoli, Carlotta ; Salerno, Grazia Gabriella ; Bertani, Gianna ; Frattini, Daniele ; Fusco, Carlo. / Expanding phenotype of PRRT2 gene mutations : A new case with epilepsy and benign myoclonus of early infancy. In: European Journal of Paediatric Neurology. 2016 ; Vol. 20, No. 3. pp. 454-456.
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