| Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F Hevner, Elena Parrini, Zoe Powis, Rikke S Møller, Cristina Bellan, Alessandro Simonati, Gaétan Lesca, Katherine L Helbig, Elizabeth E Palmer, Davide Mei, Elisa Ballardini, Arie Van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M S Mancini, Jill Clayton-Smith, Stefania Bigoni, Ingrid E Scheffer, William B Dobyns, Bente Vilsen, Renzo Guerrin. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain : a journal of neurology. vol 144. issue 5. 2021-09-23. PMID:33880529. |
early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in atp1a2. |
2021-09-23 |
2023-08-13 |
Not clear |
| Fabiola P Monteiro, Cynthia J Curry, Robert Hevner, Stephen Elliott, Jamie H Fisher, John Turocy, William B Dobyns, Larissa A Costa, Erika Freitas, João Paulo Kitajima, Fernando Ko. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. European journal of medical genetics. vol 63. issue 1. 2020-09-30. PMID:30690204. |
biallelic loss of function variants in atp1a2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. |
2020-09-30 |
2023-08-13 |
Not clear |