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Article

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Molecular genetics and metabolism - 1 Mar 2018

Sacharow Stephanie J, Dudenhausen Elizabeth E, Lomelino Carrie L, Rodan Lance, El Achkar Christelle Moufawad, Olson Heather E, Genetti Casie A, Agrawal Pankaj B, McKenna Robert, Kilberg Michael S

Abstract excerpt

Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity....

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Source

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Identifiers

PMID: 29279279
DOI: 10.1016/j.ymgme.2017.12.433
PMCID: PMC5832599

Genes

ASNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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