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Select item 83593901.

Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms

Yingji Li, Wenjing Tang, Li Kang, Shanshan Kong, Zhao Dong, Dengfa Zhao, Ruozhuo Liu, Shengyuan Yu

J Headache Pain. 2021; 22(1): 92. Published online 2021 Aug 12. doi: 10.1186/s10194-021-01309-4

PMCID:: PMC8359390

Abstract Article PDF–2.4M

Select item 79538192.

Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Fabio Antonaci, Sabrina Ravaglia, Gaetano S. Grieco, Stella Gagliardi, Cristina Cereda, Alfredo Costa

J Headache Pain. 2021; 22(1): 12. Published online 2021 Mar 12. doi: 10.1186/s10194-021-01221-x

PMCID:: PMC7953819

Abstract Article PDF–1.1M

Select item 79405613.

Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations

Mary E. Moya-Mendez, David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan, Gary Kucera, Cheryl Bock, Lyndsey Prange, Joan Jasien, Karen Keough, Vandana Shashi, Marie McDonald, Mohamad A. Mikati

Epilepsy Behav. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Epilepsy Behav. 2021 Mar; 116: 107732. Published online 2021 Jan 23. doi: 10.1016/j.yebeh.2020.107732

PMCID:: PMC7940561

Abstract Article PDF–575K

Select item 62622194.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Marisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, Andre Macedo Serafim da Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews

Brain. 2018 Dec; 141(12): 3308–3318. Published online 2018 Nov 12. doi: 10.1093/brain/awy283

PMCID:: PMC6262219

Abstract Article PDF–1.2M

Select item 44026305.

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

Se-Kyung Oh, Jeong-In Baek, Karl M Weigand, Hanka Venselaar, Herman G P Swarts, Seong-Hyun Park, Muhammad Hashim Raza, Da Jung Jung, Soo-Young Choi, Sang-Heun Lee, Thomas Friedrich, Gert Vriend, Jan B Koenderink, Un-Kyung Kim, Kyu-Yup Lee

Eur J Hum Genet. 2015 May; 23(5): 639–645. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.154

PMCID:: PMC4402630

Abstract Article PDF–2.0M

Select item 43922786.

Rescue of Na⁺ Affinity in Aspartate 928 Mutants of Na⁺,K⁺-ATPase by Secondary Mutation of Glutamate 314

Rikke Holm, Anja P. Einholm, Jens P. Andersen, Bente Vilsen

J Biol Chem. 2015 Apr 10; 290(15): 9801–9811. Published online 2015 Feb 24. doi: 10.1074/jbc.M114.625509

PMCID:: PMC4392278

Abstract Article PDF–3.1M

Select item 34445417.

Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2)

José Barros, Alexandre Mendes, Ilda Matos, José Pereira-Monteiro

J Headache Pain. 2012 Oct; 13(7): 581–585. Published online 2012 Jun 5. doi: 10.1007/s10194-012-0462-5

PMCID:: PMC3444541

Abstract Article PDF–196K

Select item 32658978.

Inhibition of Phosphorylation of Na⁺,K⁺-ATPase by Mutations Causing Familial Hemiplegic Migraine

Vivien Rodacker Schack, Rikke Holm, Bente Vilsen

J Biol Chem. 2012 Jan 13; 287(3): 2191–2202. Published online 2011 Nov 23. doi: 10.1074/jbc.M111.323022

PMCID:: PMC3265897

Abstract Article PDF–4.2M

Select item 17358779.

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

M Bassi, N Bresolin, A Tonelli, K Nazos, F Crippa, C Baschirotto, C Zucca, A Bersano, D Dolcetta, F Boneschi, V Barone, G Casari

J Med Genet. 2004 Aug; 41(8): 621–628. doi: 10.1136/jmg.2003.017863

PMCID:: PMC1735877

Summary PDF–293K

Select item 372071710.

Na⁺ transport in the normal and failing heart – remember the balance

Sanda Despa, Donald M. Bers

J Mol Cell Cardiol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Mol Cell Cardiol. 2013 Aug; 61: 2–10. Published online 2013 Apr 19. doi: 10.1016/j.yjmcc.2013.04.011

PMCID:: PMC3720717

Abstract Article PDF–618K

Select item 267410111.

The structure of the Na⁺,K⁺-ATPase and mapping of isoform differences and disease-related mutations

J. Preben Morth, Hanne Poulsen, Mads S. Toustrup-Jensen, Vivien Rodacker Schack, Jan Egebjerg, Jens Peter Andersen, Bente Vilsen, Poul Nissen

Philos Trans R Soc Lond B Biol Sci. 2009 Jan 27; 364(1514): 217–227. Published online 2008 Oct 28. doi: 10.1098/rstb.2008.0201

PMCID:: PMC2674101

Abstract Article PDF–3.6M

Select item 117801312.

Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano, J. Jay Gargus, Enrico Purisima, Rhoda Blostein

Proc Natl Acad Sci U S A. 2005 Aug 2; 102(31): 11106–11111. Published online 2005 Jul 21. doi: 10.1073/pnas.0504323102

PMCID:: PMC1178013

Abstract Article PDF–618K

Select item 747627513.

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine

Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen

J Med Genet. 2020 Sep; 57(9): 610–616. Published online 2020 Jan 24. doi: 10.1136/jmedgenet-2019-106640

PMCID:: PMC7476275

Abstract Article PDF–1.3M

Select item 674078514.

Degeneration of the Amygdala/Piriform Cortex and Enhanced Fear/Anxiety Behaviors in Sodium Pump α2 Subunit (Atp1a2)-Deficient Mice

Keiko Ikeda, Tatsushi Onaka, Makoto Yamakado, Junichi Nakai, Tomo-o Ishikawa, Makoto M. Taketo, Kiyoshi Kawakami

J Neurosci. 2003 Jun 1; 23(11): 4667–4676. doi: 10.1523/JNEUROSCI.23-11-04667.2003

PMCID:: PMC6740785

Abstract Article PDF–899K

Select item 334612615.

Protein Kinase A (PKA) Phosphorylation of Na⁺/K⁺-ATPase Opens Intracellular C-terminal Water Pathway Leading to Third Na⁺-binding site in Molecular Dynamics Simulations

Hanne Poulsen, Poul Nissen, Ole G. Mouritsen, Himanshu Khandelia

J Biol Chem. 2012 May 4; 287(19): 15959–15965. Published online 2012 Mar 20. doi: 10.1074/jbc.M112.340406

PMCID:: PMC3346126

Abstract Article PDF–1.1M

Select item 307083516.

Targeted Mutations in the Na,K-ATPase Alpha 2 Isoform Confer Ouabain Resistance and Result in Abnormal Behavior in Mice

Tori L. Schaefer, Jerry B Lingrel, Amy E. Moseley, Charles V. Vorhees, Michael T. Williams

Synapse. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Synapse. 2011 Jun; 65(6): 520–531. Published online 2010 Nov 17. doi: 10.1002/syn.20870

PMCID:: PMC3070835

Abstract Article PDF–718K

Select item 2088617.

Na,K-ATPase subunit isoforms in human reticulocytes: Evidence from reverse transcription–PCR for the presence of α1, α3, β2, β3, and γ

Martin K. Stengelin, Joseph F. Hoffman

Proc Natl Acad Sci U S A. 1997 May 27; 94(11): 5943–5948. doi: 10.1073/pnas.94.11.5943

PMCID:: PMC20886

Abstract Article PDF–323K

Select item 470666518.

Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes

Izabela Domitrz, Michalina Kosiorek, Cezary Żekanowski, Anna Kamińska

Hum Genomics. 2016; 10: 3. Published online 2016 Jan 8. doi: 10.1186/s40246-015-0057-8

PMCID:: PMC4706665

Abstract Article PDF–3.3M

Select item 391652319.

Relationship between Intracellular Na⁺ Concentration and Reduced Na⁺ Affinity in Na⁺,K⁺-ATPase Mutants Causing Neurological Disease

Mads S. Toustrup-Jensen, Anja P. Einholm, Vivien R. Schack, Hang N. Nielsen, Rikke Holm, María-Jesús Sobrido, Jens P. Andersen, Torben Clausen, Bente Vilsen

J Biol Chem. 2014 Feb 7; 289(6): 3186–3197. Published online 2013 Dec 19. doi: 10.1074/jbc.M113.543272