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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26876767
DOI: 10.1016/j.ejpn.2016.01.010

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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