Homozygous <scp>ASTN1</scp> Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation
Identification of a new pathogenic ASTN1 p.R517X (c.1549C>T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.
Authors
- Kıvanç Kök (ORCID: https://orcid.org/0000-0002-1502-1600)
- Emine Çalışkan (ORCID: https://orcid.org/0000-0001-9869-1396)
- Omar Alomarı (ORCID: https://orcid.org/0000-0003-3651-4129)
- Safiye Güneş Sağer (ORCID: https://orcid.org/0000-0002-9876-2454)
- Akif Ayaz
- Ahmet Sercan Gökşen
Institutions
- Istanbul Medipol University (TR)
- Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi (TR)
- Memorial Sisli Hospital (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1111/cge.14674
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55