PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic par...

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Hauptverfasser:	Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2019-12-01
Schriftenreihe:	Italian Journal of Pediatrics
Schlagworte:	PRRT2 mutation Dysmorphic features Microcephaly Epileptic encephalopathy
Online-Zugang:	https://doi.org/10.1186/s13052-019-0755-2
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