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Article

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

Clinical genetics - 1 Apr 2025

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

Abstract excerpt

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.

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Identifiers

PMID: 39667727
DOI: 10.1111/cge.14674

Genes

ASTN1

Variants

Provenance

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