Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.

American journal of medical genetics. Part A - 1 Sept 2026

Gokalp Sabire, Guler Elif, Kilic Mustafa

Abstract excerpt

GM3 synthase deficiency (GM3SD), also known as salt and pepper developmental regression syndrome, is a rare autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ST3GAL5. It is characterized by early onset epileptic encephalopathy, severe neurodevelopmental impairment, and sensory deficits. Routine metabolic screening tests are frequently non-specific, which may...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Disorders of Glycosylation
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Sialyltransferases

Share to Spasms, Infantile

Source

Identifiers

PMID: 42037155
DOI: 10.1002/ajmg.a.70174

Genes

ST3GAL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.PMID 42037155Read ↗

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.Semantic proximity Read ↗

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.Semantic proximity Read ↗

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case reportSemantic proximity Read ↗

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.Semantic proximity Read ↗

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.Semantic proximity Read ↗

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Semantic proximity Read ↗

Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi ArabiaSemantic proximity Read ↗

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.Semantic proximity Read ↗

Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy.Semantic proximity Read ↗

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.Semantic proximity Read ↗

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.Semantic proximity Read ↗

Inherited Developmental and Epileptic EncephalopathiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.