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Article

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

BMC neurology - 15 Jul 2016

Seidahmed Mohammed Zain, Salih Mustafa A, Abdulbasit Omer B, Samadi Abdulmohsen, Al Hussien Khalid, Miqdad Abeer M, Biary Maha S, Alazami Anas M, Alorainy Ibrahim A, Kabiraj Mohammad M, Shaheen Ranad, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by...

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Identifiers

PMID: 27422383
DOI: 10.1186/s12883-016-0633-0
PMCID: PMC4947274

Genes

ASNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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