The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

Abstract Background Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental...

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Bibliographic Details
Main Authors: Monica Weldon, Murat Kilinc, J. Lloyd Holder, Gavin Rumbaugh
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Rare disorder
Stakeholder meeting
SYNGAP1
Neurodevelopmental disorders
Epilepsy
Intellectual disability
Online Access:http://link.springer.com/article/10.1186/s11689-018-9225-1

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http://link.springer.com/article/10.1186/s11689-018-9225-1

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