학술논문
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Document Type
Article
Author
Source
Subject
*COST functions
*EPILEPSY
*DISABILITIES
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Language
ISSN
2050-0904
Abstract
Recognition of a de novo mutation in NR4A2 associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss‐of‐function intolerance index (pLi) set at 1.0 (highest intolerance constraint), we could target NR4A2 as the candidate gene in this patient. [ABSTRACT FROM AUTHOR]