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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.

Topics

Female
Humans
Infant
Codon, Nonsense
Epilepsy
Genetic Predisposition to Disease
Homozygote
Phenotype
Spasms, Infantile

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39667727
DOI: 10.1111/cge.14674

Genes

ASTN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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