| Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis. | Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Muthaffar OY, Alqarni A, Shafei JA, Bahowarth SY, Alyazidi AS, Naseer MI. | 03/26/2024 |
| Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features. | Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Alyamani SA, Aldhalaan HM, Almuhaizea MA, Abukhalid MF., Free PMC Article | 09/29/2023 |
| ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids. | ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
You Y, Zhang Z, Sultana N, Ericsson M, Martens YA, Sun M, Kanekiyo T, Ikezu S, Shaffer SA, Ikezu T., Free PMC Article | 09/22/2023 |
| Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family. | Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
Li F, Li R, Zhang Y, Jing X, Liao C. | 08/7/2023 |
| Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome. | Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova E, Toustrup-Jensen MS, Holm R, Ko JK, Lee KE, Feschenko P, Ozelius LJ, Brashear A, Vilsen B, Sweadner KJ., Free PMC Article | 03/10/2023 |
| ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA. | ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D, Song X, Ma J, Li X, Guo Y, Li M, Luo H, Fang Z, Yang C, Xie L, Jiang L. | 02/11/2023 |
| The Phenotypic Continuum of ATP1A3-Related Disorders. | The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M., Free PMC Article | 10/8/2022 |
| Vanishing basal ganglia in ATP1A3-related polymicrogyria. | Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Ogawa E, Sakaguchi Y, Enokizono M, Yoshihashi H, Yamada M, Suzuki H, Kosaki K, Miyama S, Takenouchi T. | 04/16/2022 |
| Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family. | Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wei W, Zheng XF, Ruan DD, Gan YM, Zhang YP, Chen Y, Lin XF, Tang FQ, Luo JW, Li YF. | 03/19/2022 |
| Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review. | Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M, Rydzanicz M, Szymanska K, Pieniawska-Smiech K, Lewandowicz-Uszynska A, Chruszcz J, Benben L, Kuzior-Plawiak M, Szyld P, Jakubiak A, Szenborn L, Ploski R, Smigiel R., Free PMC Article | 03/19/2022 |
| ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. | ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, Mikati MA, Landstrom AP., Free PMC Article | 01/8/2022 |
| Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3. | Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3.
Li XY, Hong YH, Wang L, Wan XH. | 12/25/2021 |
| The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism. | The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.
Yuan Y, Ran L, Lei L, Zhu H, Zhu X, Chen H. | 12/18/2021 |
| The diagnostic spectrum of ATP1A3-related disorders: 3 new patients. | The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.
Lax DN, Bieri P, Patel P. | 12/11/2021 |
| Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development. | Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development.
Smith RS, Florio M, Akula SK, Neil JE, Wang Y, Hill RS, Goldman M, Mullally CD, Reed N, Bello-Espinosa L, Flores-Sarnat L, Monteiro FP, Erasmo CB, Pinto E Vairo F, Morava E, Barkovich AJ, Gonzalez-Heydrich J, Brownstein CA, McCarroll SA, Walsh CA., Free PMC Article | 12/4/2021 |
| ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators. | 09/25/2021 |
| Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations. | Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.
Arystarkhova E, Ozelius LJ, Brashear A, Sweadner KJ., Free PMC Article | 08/28/2021 |
| Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity. | Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Lazarov E, Hillebrand M, Schröder S, Ternka K, Hofhuis J, Ohlenbusch A, Barrantes-Freer A, Pardo LA, Fruergaard MU, Nissen P, Brockmann K, Gärtner J, Rosewich H. | 08/7/2021 |
| Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype. | Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.
Snow JP, Westlake G, Klofas LK, Jeon S, Armstrong LC, Swoboda KJ, George AL Jr, Ess KC. | 07/17/2021 |
| ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. | ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N., Free PMC Article | 06/26/2021 |
| Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. | Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.
Pavone P, Pappalardo XG, Incorpora G, Falsaperla R, Marino SD, Corsello G, Parano E, Ruggieri M. | 12/26/2020 |
| Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. | Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM., Free PMC Article | 12/19/2020 |
| ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy. | ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH, Ma Y, Li ML, Zhou XY, Mou H, Jin ZB. | 10/10/2020 |
| misfolding of alpha subunit and allele competition for beta subunit are factors distinct from changes in Na,K-ATPase activity or kinetics for the potential to cause disease. | Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, Feschenko P, Salazar C, Cook JF, Demarest S, Brashear A, Ozelius LJ, Sweadner KJ., Free PMC Article | 08/13/2020 |
| This is the first systematic report of ATP1A3 mosaicism in AHC and showed mosaicism as an unrecognized source of previously considered "de novo" AHC. Identifying ATP1A3 mosaicism provides more evidence for estimating recurrence risk and has implications in genetic counseling of AHC. | ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y., Free PMC Article | 07/25/2020 |