Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy and intellectual disabili...

Descripción completa

Detalles Bibliográficos
Autores principales: Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872204/
https://www.ncbi.nlm.nih.gov/pubmed/35205321
http://dx.doi.org/10.3390/genes13020276

Ejemplares similares

Ejemplares similares