AI Article Synopsis
- Developmental and Epileptic Encephalopathies (DEEs) are early-onset syndromic disorders that lead to issues such as intellectual disability, autism, seizures, and developmental delays.
- Researchers studied three siblings from Turkey diagnosed with DEE who have parents that are first cousins and discovered a specific genetic mutation linked to their condition.
- The study highlights that the genetic change affects the arginine at position 462, which is significant in understanding various neurological disorders.
Article 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 (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 related neurological phenotypes.
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| http://dx.doi.org/10.1080/13554794.2023.2176779 | DOI Listing |
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