5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family
OPLAH gene mutations have been observed to cause different clinical findings in the same family. A correlation was found between urine 5-oxoproline levels and the severity of clinical findings.
Authors
- Deniz Kör (ORCID: https://orcid.org/0000-0001-7659-0500)
- Burcu Köşeci (ORCID: https://orcid.org/0000-0002-0813-6776)
- İrem Kaplan (ORCID: https://orcid.org/0000-0002-5006-3646)
- Esra Kara (ORCID: https://orcid.org/0000-0001-9119-0791)
- Neslihan Önenli Mungan (ORCID: https://orcid.org/0000-0001-7862-3038)
- Ezgi Burgaç (ORCID: https://orcid.org/0000-0003-2936-058X)
- Fatma Derya Bulut (ORCID: https://orcid.org/0000-0003-0529-2404)
- Neslihan Özcan (ORCID: https://orcid.org/0000-0003-4352-1685)
Institutions
- Gaziantep Children's Hospital (TR)
- Sivas State Hospital (TR)
- Cukurova University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-04-03
- DOI
- https://doi.org/10.1159/000545609
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00