| 1 | EIOS, SAPS, ST3GAL5
|
| A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
|
| Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE.
|
| Hum Mol Genet 23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10.
2014
|
| 2 | EIOS, ST3GAL5
|
| Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
|
| Fragaki K, Ait-El-Mkadem S, Chaussenot A, Gire C, Mengual R, Bonesso L, Bénéteau M, Ricci JE, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-Flucklinger V.
|
| Eur J Hum Genet 21(5):528-34. doi: 10.1038/ejhg.2012.202. Epub 2012 Sep 19.
2013
|
| 3 | ST3GAL5, EIOS
|
| Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
|
| 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.
|
| Nat Genet 36(11):1225-9. Epub 2004 Oct 24. 2004
|