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, cilt.28, sa.6, ss.488-492, 2022 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 6
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1080/13554794.2023.2176779
  • Dergi Adı: Neurocase
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.488-492
  • Anahtar Kelimeler: ELP2, Epileptic encephalopathy, exome sequencing, intellectual disability
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.