Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
Eur J Paediatr Neurol
; 20(3): 454-6, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26876767
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsia
/
Proteínas de Membrana
/
Mutação
/
Mioclonia
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article