European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2016
Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Maini Ilenia, Iodice Alessandro, Spagnoli Carlotta, Salerno Grazia Gabriella, Bertani Gianna, Frattini Daniele, Fusco Carlo
Аннотация
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.
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.