Amish infantile epilepsy syndrome

Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified.

Nervous system disease

ST3GAL5 [HSA:8869] [KO:K03370]

PMID:15502825

Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Nat Genet 36:1225-9 (2004)