| 1 | ATP1A2, FARIMPD |
| Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations | |
| Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. | |
| Eur J Med Genet. Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. 2020 | |
| 2 | ATP1A2, FARIMPD |
| A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants | |
| Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L, Labalme A, Marks P, Osio D, Putoux A, Sanlaville D, Lesca G, Vasiljevic A. | |
| Brain. Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272. 2019 | |