학술논문
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Document Type
Case Study
Author
Source
Subject
*SIBLINGS
*INTELLECTUAL disabilities
*NEURAL development
*DEVELOPMENTAL delay
*EPILEPSY
*LITERATURE reviews
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*
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Language
ISSN
1355-4794
Abstract
Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes. [ABSTRACT FROM AUTHOR]