PMC Articles for MedGen (Select 318633) - PMC

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

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Select item 63688104.

Ida Stenshorne, Magnhild Rasmussen, Panagiotis Salvanos, Chantal M. E. Tallaksen, Laurence A. Bindoff, Jeanette Koht

Cerebellum Ataxias. 2019; 6: 2. Published online 2019 Feb 8. doi: 10.1186/s40673-019-0096-3

PMCID:: PMC6368810

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Select item 63228755.

Functional consequences of the CAPOS mutation E818K of Na⁺,K⁺-ATPase

Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen

J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591

PMCID:: PMC6322875

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The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

Matthew T. Sweney, Tara M. Newcomb, Kathryn J. Swoboda

Pediatr Neurol. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Pediatr Neurol. 2015 Jan; 52(1): 56–64. Published online 2014 Oct 13. doi: 10.1016/j.pediatrneurol.2014.09.015

PMCID:: PMC4352574

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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

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Select item 103933998.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano

Brain. 2023 Aug; 146(8): 3162–3171. Published online 2023 Apr 12. doi: 10.1093/brain/awad124

PMCID:: PMC10393399

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Select item 100649129.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Anhar Hassan

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747

PMCID:: PMC10064912

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Select item 957630410.

The Phenotypic Continuum of ATP1A3-Related Disorders

Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927

PMCID:: PMC9576304

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Genetically altered animal models for ATP1A3-related disorders

Hannah W. Y. Ng, Jennifer A. Ogbeta, Steven J. Clapcote

Dis Model Mech. 2021 Oct 1; 14(10): dmm048938. Published online 2021 Oct 6. doi: 10.1242/dmm.048938

PMCID:: PMC8503543

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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel

Mol Genet Genomic Med. 2021 Sep; 9(9): e1772. Published online 2021 Aug 2. doi: 10.1002/mgg3.1772

PMCID:: PMC8457706

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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

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ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi

Sci Rep. 2017; 7: 16504. Published online 2017 Nov 28. doi: 10.1038/s41598-017-16676-9

PMCID:: PMC5705773

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De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara

BMC Neurol. 2016; 16: 174. Published online 2016 Sep 15. doi: 10.1186/s12883-016-0680-6

PMCID:: PMC5025569

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Select item 937390216.

Molecular and clinical characteristics of ATP1A3-related diseases

Yinchao Li, Xianyue Liu, Chengzhe Wang, Zhengwei Su, Ke Zhao, Man Yang, Shuda Chen, Liemin Zhou

Front Neurol. 2022; 13: 924788. Published online 2022 Jul 26. doi: 10.3389/fneur.2022.924788

PMCID:: PMC9373902

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A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations

Saja Tahir, Nidheesh Chencheri, Abdalla A Abdalla, Mohamed O E Babiker

Cureus. 2021 Dec; 13(12): e20438. Published online 2021 Dec 15. doi: 10.7759/cureus.20438

PMCID:: PMC8759976

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Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

Jelena De Vrieze, Ingrid M.B.H. van de Laar, Johanneke F. de Rijk-van Andel, Erik-Jan Kamsteeg, Irene A.W. Kotsopoulos, Stella A. de Man

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211048068. Published online 2021 Nov 3. doi: 10.1177/2329048X211048068

PMCID:: PMC8573619

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Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss

Alicia Wang, A. Eliot Shearer, Guang Wei Zhou, Margaret Kenna, Dennis Poe, Greg R. Licameli, Jacob R. Brodsky

Front Neurol. 2021; 12: 714543. Published online 2021 Oct 21. doi: 10.3389/fneur.2021.714543

PMCID:: PMC8567025

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Select item 853151120.

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Wenjia Wang, Jin Li, Lan Lan, Linyi Xie, Fen Xiong, Jing Guan, Hongyang Wang, Qiuju Wang

Front Cell Dev Biol. 2021; 9: 749484. Published online 2021 Oct 8. doi: 10.3389/fcell.2021.749484

PMCID:: PMC8531511

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