<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+ - ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar a...

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Autori principali: Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan 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 Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir
Natura: Artigo
Lingua:inglese
Pubblicazione: 2021
Accesso online:https://doi.org/10.1093/brain/awab052
https://academic.oup.com/brain/article-pdf/144/5/1435/38813409/awab052.pdf
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Accesso online

https://doi.org/10.1093/brain/awab052
https://academic.oup.com/brain/article-pdf/144/5/1435/38813409/awab052.pdf

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