Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Khalilov D., Haryanyan G., Salman B., YÜCESAN E., Ugur Iseri S. A., Bebek N.

Neurocase, vol.28, no.6, pp.488-492, 2022 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 6
  • Publication Date: 2022
  • Doi Number: 10.1080/13554794.2023.2176779
  • Journal Name: Neurocase
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo
  • Page Numbers: pp.488-492
  • Keywords: ELP2, Epileptic encephalopathy, exome sequencing, intellectual disability
  • Istanbul University Affiliated: Yes

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.