Results 1 to 10 of about 2,451 (126)

The role of ATP1A3 gene in epilepsy: We need to know more

Frontiers in Cellular Neuroscience, 2023
The ATP1A3 gene, which encodes the Na+/K+-ATPase α3 catalytic subunit, plays a crucial role in both physiological and pathological conditions in the brain, and mutations in this gene have been associated with a wide variety of neurological diseases by ...
Cenglin Xu, Yu-Long Lan, Yiwei Gong
exaly   +3 more sources

Molecular and clinical characteristics of ATP1A3-related diseases

Frontiers in Neurology, 2022
ObjectiveWith detailed studies of ATP1A3-related diseases, the phenotypic spectrum of ATP1A3 has greatly expanded. This study aimed to potentially identify the mechanisms by which ATP1A3 caused neurological dysfunction by analyzing the clinical features ...
Liemin Zhou, Yinchao Li, Shuda Chen
exaly   +3 more sources

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Frontiers in Neurology, 2021
The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system.
Dennis Lal, Ignacio F Mata
exaly   +3 more sources

ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Pathogenic variation in the ATP1A3‐encoded sodium‐potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC).
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom   +18 more
doaj   +1 more source

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis

Frontiers in Aging Neuroscience, 2022
BackgroundRapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.ObjectiveThis study aimed to ...
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke   +12 more
doaj   +1 more source

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. [PDF]

PLoS ONE, 2015
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort.
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda   +40 more
doaj   +1 more source

Genetically altered animal models for ATP1A3-related disorders

Disease Models & Mechanisms, 2021
Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified as the
Hannah W. Y. Ng, Jennifer A. Ogbeta, Steven J. Clapcote   +2 more
doaj   +1 more source

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. [PDF]

PLoS ONE, 2013
BACKGROUND:Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by transient repeated attacks of paresis and cognitive impairment. Recent studies from the U.S. and Europe have described ATP1A3 mutations in AHC. However, the genotype-
Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose   +12 more
doaj   +1 more source

Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow‐up

Pediatric Investigation, 2022
Importance The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness and encephalopathy (FIPWE) are considered non‐classical phenotypes caused by p.Arg756 mutations of ...
Weihua Zhang, Jiuwei Li, Xiuwei Zhuo, Ji Zhou, Weixing Feng, Shuai Gong, Xiaotun Ren, Changhong Ding, Tongli Han, Fang Fang   +9 more
doaj   +1 more source

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Neurobiology of Disease, 2020
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that encodes the neuronal specific α3 subunit of the Na,K-ATPase (NKA) pump. Mechanisms underlying patient
John P. Snow, Grant Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Jr, Kevin C. Ess   +7 more
doaj   +1 more source