| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Behzad Haj Mohammad Hassani, Kianoosh Malekzade. The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns. Neurogenetics. 2024-07-24. PMID:39046620. |
farimpd (fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a severe condition caused by atp1a2 gene variants. |
2024-07-24 |
2024-07-26 |
human |
| 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. |
we performed neuropathological analysis of the whole brain in two individuals with polymicrogyria respectively related to a heterozygous atp1a3 mutation and a homozygous atp1a2 mutation and found close similarities with findings suggesting a mainly neural pathogenesis, compounded by vascular and leptomeningeal abnormalities. |
2021-09-23 |
2023-08-13 |
Not clear |
| 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 |