West syndrome caused by ST3Gal‐III deficiency. (17th December 2012)

• Record Type: Journal Article
• Authors: Edvardson, Simon; Baumann, Anna‐Maria; Mühlenhoff, Martina; Stephan, Oliver; Kuss, Andreas W.; Shaag, Avraham; He, Liqun; Zenvirt, Shamir; Tanzi, Raimo; Gerardy‐Schahn, Rita; Elpeleg, Orly
• Is Part Of: Epilepsia. Volume 54:issue 2(2013:Feb.)
• Page Start: e24
• Page End: e27
• Publication Date: 2012-12-17
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12050
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Summary</title> <p>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 <italic>ST3GAL3</italic> mutation in three infants with West syndrome. <italic>ST3GAL3</italic> 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 <italic>ST3GAL3</italic> may thus result in perturbation of the posttranslational sialylation of proteins in these pathways.</p> </abstract>