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Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Authors
  • Al-Maawali, Almundher1, 2
  • Al-Murshedi, Fathiya1
  • Al-Futaisi, Amna3
  • Mansy, Ahmed3
  • Al-Habsi, Asila4
  • Girisha, Katta M5
  • 1 Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 2 Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 3 Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 4 Department of Nursing, Sultan Qaboos University Hospital, Muscat, Oman. , (Oman)
  • 5 Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. [email protected]. , (Oman)
Type
Published Article
Journal
European Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Feb 01, 2024
Volume
32
Issue
2
Pages
243–246
Identifiers
DOI: 10.1038/s41431-023-01493-8
PMID: 37985816
Source
Medline
Language
English
License
Unknown

Abstract

Synaptic Vesicle Glycoprotein 2 A (SV2A) is a membrane protein of synaptic vesicles and the binding site of antiepileptic drug levetiracetam. Biallelic Arg383Gln is reported in a family with intractable epilepsy earlier. Here, we report on the second family with early onset drug resistant epilepsy. We identified homozygous Arg289Ter variant by exome sequencing that segregated with the phenotype in the family. The affected children in these two families are normal at birth and developed recurrent seizures beginning in the second month of life and developed secondary failure of growth and development. Knock out mice models earlier had replicated the human phenotype observed in these two families. These findings support that biallelic loss of function variants in SV2A result in early onset intractable epilepsy in humans. © 2023. The Author(s), under exclusive licence to European Society of Human Genetics.

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