Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report

Yılmaz F. H., Kahraman A. B., DUYMUŞ F., Koçak Eker H., Çelik H., Büyükeren M., ...More

Molecular Syndromology, vol.17, no.3, pp.271-275, 2026 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 17 Issue: 3
  • Publication Date: 2026
  • Doi Number: 10.1159/000547752
  • Journal Name: Molecular Syndromology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.271-275
  • Keywords: Case report, Hyperekplexia, Newborn, Novel SLC6A5 variant, Transient hyperammonemia
  • Uşak University Affiliated: Yes