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

Neurocase. 2022 Dec;28(6):488-492. doi: 10.1080/13554794.2023.2176779. Epub 2023 Feb 14.

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.

Keywords: ELP2; Epileptic encephalopathy; exome sequencing; intellectual disability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epilepsy*
  • Humans
  • Intellectual Disability*
  • Intracellular Signaling Peptides and Proteins / genetics
  • Neurodevelopmental Disorders* / genetics
  • Phenotype
  • Seizures
  • Siblings

Substances

  • ELP2 protein, human
  • Intracellular Signaling Peptides and Proteins