Amish infantile epilepsy syndrome(redirected from G3 synthase deficiency)
Amish infantile epilepsy syndromeA rare autosomal recessive, infantile-onset symptomatic epilepsy (OMIM:609056) associated with developmental delays, failure to thrive and blindness.
Defects of ST3GAL5, which encodes a type-II membrane protein that catalyses the formation of GM3, cause Amish infantile epilepsy syndrome.
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