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

• Autori principali: Piero Pavone (Autore), Giovanni. Corsello (Autore), Sung Yoon Cho (Autore), Xena Giada Pappalardo (Autore), Martino Ruggieri (Autore), Simona Domenica Marino (Autore), Dong Kyu Jin (Autore), Silvia Marino (Autore), Raffaele Falsaperla (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2019-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...