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West syndrome caused by ST3Gal‐III deficiency
Author(s) -
Edvardson Simon,
Baumann AnnaMaria,
Mühlenhoff Martina,
Stephan Oliver,
Kuss Andreas W.,
Shaag Avraham,
He Liqun,
Zenvirt Shamir,
Tanzi Raimo,
GerardySchahn Rita,
Elpeleg Orly
Publication year - 2013
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12050
Subject(s) - west syndrome , hypsarrhythmia , exome sequencing , epilepsy , forebrain , biology , glycoprotein , mutation , biochemistry , genetics , endocrinology , neuroscience , central nervous system , gene
Summary 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.