Work

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation

Year: 2024

Type: article

Abstract: 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.

Source: Clinical Genetics

DOI: 10.1111/cge.14674

Authors: Akif Ayaz, Safiye Güneş Sager, Ahmet Sercan Gökşen, Kıvanç Kök, Emine Caliskan, Omar Alomari

Institutions: Memorial Sisli Hospital, Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi, Sağlık Bilimleri Üniversitesi, Istanbul Medipol University

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4405310610

FWCI: 0.534

Cites: 4

Cited by: 2

Related to: 10