Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

SETBP1 mutations are associated with the Schinzel-Giedion syndrome (SGS), characterized by profound neurodevelopmental delay, typical facial features, and multiple congenital malformations (OMIM 269150). Refractory epilepsy is a common feature of SGS. Loss of function mutations have been typically a...

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Detalles Bibliográficos
Autores principales: Leonardi, Emanuela, Bettella, Elisa, Pelizza, Maria Federica, Aspromonte, Maria Cristina, Polli, Roberta, Boniver, Clementina, Sartori, Stefano, Milani, Donatella, Murgia, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772201/
https://www.ncbi.nlm.nih.gov/pubmed/33391157
http://dx.doi.org/10.3389/fneur.2020.593446

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