West syndrome caused by ST3Gal-III deficiency.

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.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Edvardson S,Baumann AM,Mühlenhoff M,Stephan O,Kuss AW,Shaag A,He L,Zenvirt S,Tanzi R,Gerardy-Schahn R,Elpeleg O

doi

10.1111/epi.12050

subject

Has Abstract

pub_date

2013-02-01 00:00:00

pages

e24-7

issue

2

eissn

0013-9580

issn

1528-1167

journal_volume

54

pub_type

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