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

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 paroxysms s...

Descripción completa

Detalles Bibliográficos
Autores principales: Pavone, Piero, Corsello, Giovanni., Cho, Sung Yoon, Pappalardo, Xena Giada, Ruggieri, Martino, Marino, Simona Domenica, Jin, Dong Kyu, Marino, Silvia, Falsaperla, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894132/
https://www.ncbi.nlm.nih.gov/pubmed/31801583
http://dx.doi.org/10.1186/s13052-019-0755-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894132/
https://www.ncbi.nlm.nih.gov/pubmed/31801583
http://dx.doi.org/10.1186/s13052-019-0755-2

Ejemplares similares