Amish infantile epilepsy syndrome

(redirected from G3 synthase deficiency)

Amish infantile epilepsy syndrome

A rare autosomal recessive, infantile-onset symptomatic epilepsy (OMIM:609056) associated with developmental delays, failure to thrive and blindness.

Molecular pathology
Defects of ST3GAL5, which encodes a type-II membrane protein that catalyses the formation of GM3, cause Amish infantile epilepsy syndrome.