Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report
This case highlights the importance of recognizing hereditary hyperekplexia in the differential diagnosis of neonatal seizures and supports the potential pathogenic relevance of the <i>SLC6A5</i> c.748T>C (p.Ser250Pro) variant, particularly in benign, nonrecurrent cases with transient hyperammonemia from catabolic stress and glycine transporter dysfunction.
Authors
- Fahrettin Duymuş (ORCID: https://orcid.org/0000-0002-8130-9792)
- Beyza Özcan (ORCID: https://orcid.org/0000-0002-2834-5823)
- Fatma Hilal Yılmaz (ORCID: https://orcid.org/0000-0002-1152-9773)
- Ayça Burcu Kahraman (ORCID: https://orcid.org/0000-0002-9563-0296)
- Hatice Koçak Eker (ORCID: https://orcid.org/0000-0003-2735-6739)
- Halil Çelik (ORCID: https://orcid.org/0000-0002-2022-2909)
- Ramazan Keçeci (ORCID: https://orcid.org/0000-0001-8753-2541)
- Melek Büyükeren (ORCID: https://orcid.org/0000-0001-8602-6241)
Institutions
- Usak University (TR)
- Konya Food and Agriculture University (TR)
- Konya Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-08-20
- DOI
- https://doi.org/10.1159/000547752
- Primary Topic
- Supramolecular Chemistry and Complexes
- Type
- article
- Field-Weighted Citation Impact
- 0.00