| 1 | EIEE55, PIGP |
| Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. | |
| Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM. | |
| Hum Mol Genet 26(9):1706-1715. doi: 10.1093/hmg/ddx077. 2017 | |