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

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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Bibliographic Details
Main Authors: Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Neurology
Subjects:
SETBP1
ID
epilepsy
epileptic encephalopathy
NGS
gene panel
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.593446/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2020.593446/full

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