PMC Links for OMIM (Select 182350) - PMC

Select item 77347361.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya

Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794

PMCID:: PMC7734736

Abstract Article PDF–1.2M

Select item 67829682.

Cellular and Subcellular Specification of Na,K-ATPase α and β Isoforms in the Postnatal Development of Mouse Retina

Randall K. Wetzel, Elena Arystarkhova, Kathleen J. Sweadner

J Neurosci. 1999 Nov 15; 19(22): 9878–9889. doi: 10.1523/JNEUROSCI.19-22-09878.1999

PMCID:: PMC6782968

Abstract Article PDF–1.1M

Select item 67752073.

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle

Front Cell Neurosci. 2019; 13: 425. Published online 2019 Sep 26. doi: 10.3389/fncel.2019.00425

PMCID:: PMC6775207

Abstract Article PDF–4.5M

Select item 47987764.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Kathleen J. Sweadner, Camilo Toro, Christopher T. Whitlow, Beverly M. Snively, Jared F. Cook, Laurie J. Ozelius, Thomas C. Markello, Allison Brashear

PLoS One. 2016; 11(3): e0151429. Published online 2016 Mar 18. doi: 10.1371/journal.pone.0151429

PMCID:: PMC4798776

Abstract Article PDF–845K

Select item 45837415.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Fiorella Gurrieri, Danilo Tiziano, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou, The Italian IBAHC Consortium, The French AHC Consortium, The International AHC Consortium

Orphanet J Rare Dis. 2015; 10: 123. Published online 2015 Sep 26. doi: 10.1186/s13023-015-0335-5

PMCID:: PMC4583741

Abstract Article PDF–1010K

Select item 40265766.

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Xiaoling Yang, Hua Gao, Jie Zhang, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Liping Wei, Yuehua Zhang

PLoS One. 2014; 9(5): e97274. Published online 2014 May 19. doi: 10.1371/journal.pone.0097274

PMCID:: PMC4026576

Abstract Article PDF–1012K

Select item 39371507.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman

Orphanet J Rare Dis. 2014; 9: 15. Published online 2014 Jan 28. doi: 10.1186/1750-1172-9-15

PMCID:: PMC3937150

Abstract Article PDF–843K

Select item 36109618.

α₃Na⁺/K⁺-ATPase Deficiency Causes Brain Ventricle Dilation and Abrupt Embryonic Motility in Zebrafish

Canan Doğanlı, Hans C. Beck, Angeles B. Ribera, Claus Oxvig, Karin Lykke-Hartmann

J Biol Chem. 2013 Mar 29; 288(13): 8862–8874. Published online 2013 Feb 11. doi: 10.1074/jbc.M112.421529

PMCID:: PMC3610961

Abstract Article PDF–3.0M

Select item 34422409.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, F. Danilo Tiziano, Bertrand Fontaine, Nicole M. Walley, Sinéad Heavin, Eleni Panagiotakaki, European AHC Genetics Consortium, I.B.AHC Consortium, ENRAH for SME Consortium, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew T. Sweney, Tara M. Newcomb, Louis Viollet, Chad Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis E. Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptác?ek, Joost Haan, Michel D. Ferrari, Ann M. Bye, Geoffrey K. Herkes, Charlotte M. Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M.J.M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein, European AHC Genetics Consortium, Sophie Nicole, Fiorella Gurrieri, Giovanni Neri, Boukje de Vries, Stephany Koelewijn, Jessica Kamphorst, Marije Geilenkirchen, Nadine Pelzer, Laura Laan, Joost Haan, Michel Ferrari, Arn van den Maagdenberg, I.B.AHC Consortium, Claudio Zucca, Maria Teresa Bassi, Filippo Franchini, Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Elisa De Grandis, Edvige Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, ENRAH for SME, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Sona Nevsimalova, Laura Laan, Cacha Peeters-Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis Crawley, Dominique Poncelin, Rosaria Vavassori

Nat Genet. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1030–1034. Published online 2012 Jul 29. doi: 10.1038/ng.2358

PMCID:: PMC3442240

Abstract Article PDF–1.3M

Select item 283326810.

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

I A. Anselm, K J. Sweadner, S Gollamudi, L J. Ozelius, B T. Darras

Neurology. 2009 Aug 4; 73(5): 400–401. doi: 10.1212/WNL.0b013e3181b04acd

PMCID:: PMC2833268

Article PDF–423K

Select item 279169911.

Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity

Lesley J. Ashmore, Stacy L. Hrizo, Sarah M. Paul, Wayne A. Van Voorhies, Greg J. Beitel, Michael J. Palladino

Hum Genet. 2009; 126(3): 431–447. Published online 2009 May 12. doi: 10.1007/s00439-009-0673-2

PMCID:: PMC2791699

Abstract Article PDF–1.1M

Select item 272902412.

Mutation I810N in the α3 isoform of Na⁺,K⁺-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

Steven J. Clapcote, Steven Duffy, Gang Xie, Greer Kirshenbaum, Allison R. Bechard, Vivien Rodacker Schack, Janne Petersen, Laleh Sinai, Bechara J. Saab, Jason P. Lerch, Berge A. Minassian, Cameron A. Ackerley, John G. Sled, Miguel A. Cortez, Jeffrey T. Henderson, Bente Vilsen, John C. Roder

Proc Natl Acad Sci U S A. 2009 Aug 18; 106(33): 14085–14090. Published online 2009 Aug 3. doi: 10.1073/pnas.0904817106

PMCID:: PMC2729024

Abstract Article PDF–1.9M

Select item 105061513.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

P Nicolaides, R E Appleton, A Fryer

J Med Genet. 1996 May; 33(5): 419–421. doi: 10.1136/jmg.33.5.419

PMCID:: PMC1050615

Summary Page Browse PDF–635K

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