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
Epilepsiajournal_title
Epilepsiaauthors
Edvardson S,Baumann AM,Mühlenhoff M,Stephan O,Kuss AW,Shaag A,He L,Zenvirt S,Tanzi R,Gerardy-Schahn R,Elpeleg Odoi
10.1111/epi.12050subject
Has Abstractpub_date
2013-02-01 00:00:00pages
e24-7issue
2eissn
0013-9580issn
1528-1167journal_volume
54pub_type
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