Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy. (May 2016)

• Record Type: Journal Article
• Authors: Maini, Ilenia; Iodice, Alessandro; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Bertani, Gianna; Frattini, Daniele; Fusco, Carlo
• Is Part Of: European journal of paediatric neurology. Volume 20:Number 3(2016:May)
• Page Start: 454
• Page End: 456
• Publication Date: 2016-05
• Subjects: PRRT2 -- Benign myoclonus of early infancy -- Paroxysmal kinesigenic dyskinesia -- Benign familial infantile epilepsy -- Movement disorders; Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2016.01.010
• Languages: English
• ISSNs: 1090-3798

Abstract

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. Highlights: We describe a case with the most frequent PRRT2-gene mutation and a new phenotype. Association of benign myoclonus of early infancy in a patient with epilepsy. The first linkage between benign myoclonus of early infancy and known gene mutation. Supposed pathogenic role of PRRT2 mutation in benign myoclonus of early infancy.