Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 29-03-2014
Symbol EIOS
Location 2p11.2
Name epilepsy syndrome, infantile-onset, symptomatic
Other name(s) GM3 synthase deficiency
Corresponding gene ST3GAL5
Main clinical features
  • Amish infantile epilepsy, associated with developmental stagnation and blindness
  • early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name ST3 beta-galactoside alpha-2,3-sialyltransferase 5
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     homozygous 5966delG mutation
    Remark(s)
  • GM3 synthase deficiency, responsible for early-onset epilepsy syndrome, leads to a secondary respiratory chain (RC) dysfunction (PMID;: 22990144))