Work

The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0372

Authors: Leyla Gizem Bolaç Özyılmaz, Ayberk Türkyılmaz, Özge Pelin Akbay, Aydilek Dağdeviren Çakır, Ahmet Uçar

Institutions: Sağlık Bilimleri Üniversitesi, Karadeniz Technical University

Language: English

Topic: Ion Transport and Channel Regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4416573182

FWCI:

Cites: 24

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