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Epilepsia. 2013 Feb;54(2):e24-7. doi: 10.1111/epi.12050. Epub 2012 Dec 17.

West syndrome caused by ST3Gal-III deficiency.

Author information

1
Monique and Jacques Roboh Department of Genetic Research, the Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

Abstract

West syndrome consists of infantile spasms, hypsarrhythmia, and developmental arrest. Most patients remain mentally retarded and many develop Lennox-Gastaut syndrome. Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome. ST3GAL3 encodes a sialyltransferase involved in the biosynthesis of sialyl-Lewis epitopes on cell surface-expressed glycoproteins. The mutation affected an essential sialyl-motif and abolished enzymatic activity. Abnormalities in proteins involved in forebrain γ-aminobutyric acid (GABA)ergic synaptic growth and function were recently proposed to account for infantile spasms. Dysfunctional ST3GAL3 may thus result in perturbation of the posttranslational sialylation of proteins in these pathways.

PMID:
23252400
DOI:
10.1111/epi.12050
[Indexed for MEDLINE]
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