| 1 | ATP1A2, ATP1A3, DEE98, DEE99 |
| ATP1A2/A3-collaborators. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | |
| Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Mřller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; | |
| Brain. Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052 2021 | |
| 2 | ATP1A2, DEE98 |
| Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations. | |
| Moya-Mendez ME, Mueller DM, Pratt M, Bonner M, Elliott C, Hunanyan A, Kucera G, Bock C, Prange L, Jasien J, Keough K, Shashi V, McDonald M, Mikati MA. | |
| Epilepsy Behav. Mar;116:107732. doi: 10.1016/j.yebeh.2020.107732. Epub 2021 Jan 23. 2021 | |
| 3 | AHC2, ATP1A3, CAPOS DYT12, DEE98 |
| ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction. | |
| Duat-Rodríguez A, Prochazkova M, Sebastian IP, Extremera VC, Legido MJ, Palero SR, Ortiz Cabrera NV. | |
| Eur J Paediatr Neurol. Sep;34:105-109. doi: 10.1016/j.ejpn.2021.08.005. Epub 2021 Aug 26. 2021 | |