Condition: Amish Infantile Epilepsy Syndrome


rs104893668 in ST3GAL5 gene and Amish Infantile Epilepsy Syndrome PMID 15502825 2004 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

PMID 23436467 2013 Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.

PMID 22990144 2013 Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

rs878854615 in ST3GAL5-AS1;ST3GAL5 gene and Amish Infantile Epilepsy Syndrome PMID 15502825 2004 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

PMID 27232954 2016 GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

PMID 22990144 2013 Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.