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D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload Bidzimou, M.-T.K.; Muralidharan, P.; Zhang, Z.; Raza, D.; Needs, D.; Sun, B.; Perelli, R.M.; Moya-Mendez, M.E.; Manivannan, P.K.R.; Hunanyan, A.S.;等. ATP1A3编码的Na/K-ATP酶α3中的D801N通过钠-钙交换介导的钙超载导致心律失常发生。JCI Insight 2026, 11, e197721. [Google Scholar] [CrossRef] Bidzimou, Minu-Tshyeto K.; Muralidharan, Padmapriya; Zhang, Zhushan; Raza, Danyal; Needs, Daniel; Sun, Bo; Perelli, Robin M.; Moya-Mendez, Mary E.; Manivannan, P. K. Rakesh; Hunanyan, Arsen S.; Helfer, Abbigail; Simmons, Christine Q.; George Jr., Alfred L.; Bers, Donald M.; Bursac, Nenad; Mikati, Mohamad A.; Landstrom, Andrew P. 分享 收藏
Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation Hunanyan, Arsen S.; Verma, Amitesh; Bidzimou, Minu-Tshyeto; Biswas, Debolina D.; Da Cruz, Emily; Srour, Meredith K.; Marek, Joshua; Hume, Cordelia; Elmallah, Mai K.; Landstrom, Andrew P.; Mikati, Mohamad A. 分享 收藏
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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene Panagiotakaki, Eleni; Tiziano, Francesco D.; Mikati, Mohamad A.; Vijfhuizen, Lisanne S.; Nicole, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; Harder, Aster V. E.; Walley, Nicole M.; De Grandis, Elisa; Poulat, Anne-Lise; Portes, Vincent Des; Lepine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H.; George, Alfred L., Jr.; Gurrieri, Fiorella; van den Maagdenberg, Arn M. J. M.; Heinzen, Erin L. 分享 收藏
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Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children Peariso, Katrina; Arya, Ravindra S.; Glauser, Tracy; Abend, Nicholas; Aguilar, Cristina Barcia; Amengual-Gual, Marta L.; Anderson, Anne; Appavu, Brian; Brenton, J. Nicholas E.; Carpenter, Jessica; Chapman, Kevin D.; Clark, Justice; Gaillard, William; Gainza-Lein, Marina; Goldstein, Joshua; Goodkin, Howard M.; Grinspan, Zachary S.; Guerriero, Rejean; Horn, Paul; Huh, Linda A.; Kahoud, Robert H.; Kelley, Sarah; Kossoff, Eric; Kapur, Kush; Lai, Yi-Chen; Marquis, B. Oyinkan A.; McDonough, Tiffani; Mikati, Mohamad; Morgan, Lindsey P.; Novotny, Edward T.; Ostendorf, Adam; Payne, Eric; Piantino, Juan; Riviello, James E.; Sands, Tristan C.; Stafstrom, Carl; Tasker, Robert; Tchapyjnikov, Dmitry S.; Vasquez, Alejandra; Wainwright, Mark; Wilfong, Angus; Williams, Korwyn; Loddenkemper, Tobias 分享 收藏
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Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy 内侧颞叶癫痫的罕见遗传变异和手术结果 Perucca, Piero; Stanley, Kate; Harris, Natasha; McIntosh, Anne M.; Asadi-Pooya, Ali A.; Mikati, Mohamad A.; Andrade, Danielle M.; Dugan, Patricia; Depondt, Chantal; Choi, Hyunmi; Heinzen, Erin L.; Cavalleri, Gianpiero L.; Buono, Russell J.; Devinsky, Orrin; Sperling, Michael R.; Berkovic, Samuel F.; Delanty, Norman; Goldstein, David B.; O'Brien, Terence J. 分享 收藏
Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial Sun, Jessica M.; Case, Laura E.; McLaughlin, Colleen; Burgess, Alicia; Skergan, Natalie; Crane, Sydney; Jasien, Joan M.; Mikati, Mohamad A.; Troy, Jesse; Kurtzberg, Joanne 分享 收藏
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations 不同基因的体细胞变异导致一系列局灶性皮质畸形 Lai, Dulcie; Gade, Meethila; Yang, Edward; Koh, Hyun Yong; Lu, Jinfeng; Walley, Nicole M.; Buckley, Anne F.; Sands, Tristan T.; Akman, Cigdem, I; Mikati, Mohamad A.; McKhann, Guy M.; Goldman, James E.; Canoll, Peter; Alexander, Allyson L.; Park, Kristen L.; Von Allmen, Gretchen K.; Rodziyevska, Olga; Bhattacharjee, Meenakshi B.; Lidov, Hart G. W.; Vogel, Hannes; Grant, Gerald A.; Porter, Brenda E.; Poduri, Annapurna H.; Crino, Peter B.; Heinzen, Erin L. 分享 收藏
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L.; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H.; Stong, Nicholas; Kranz, Peter G.; Kansagra, Sujay; Mikati, Mohamad A.; Jasien, Joan; El-Dairi, Mays; Network, Undiagnosed Diseases; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari, Francesca; Wangler, Michael F.; Arur, Swathi; Jiang, Yong-Hui; Yamamoto, Shinya; Shashi, Vandana; Bellen, Hugo J. 分享 收藏
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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, Mary E.; Ogbonna, Chiagoziem; Ezekian, Jordan E.; Rosamilia, Michael B.; Prange, Lyndsey; de la Uz, Caridad; Kim, Jeffrey J.; Howard, Taylor; Garcia, John; Nussbaum, Robert; Truty, Rebecca; Callis, Thomas E.; Funk, Emily; Heyes, Matthew; Dear, Guy de Lisle; Carboni, Michael P.; Idriss, Salim F.; Mikati, Mohamad A.; Landstrom, Andrew P. 分享 收藏
Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticus Sheehan, Theodore; Amengual-Gual, Marta; Vasquez, Alejandra; Abend, Nicholas S.; Anderson, Anne; Appavu, Brian; Arya, Ravindra; Aguilar, Cristina Barcia; Brenton, J. Nicholas; Carpenter, Jessica L.; Chapman, Kevin E.; Clark, Justice; Farias-Moeller, Raquel; Gaillard, William D.; Gainza-Lein, Marina; Glauser, Tracy A.; Goldstein, Joshua L.; Goodkin, Howard P.; Guerriero, Rejean M.; Huh, Linda; Jackson, Michele; Kapur, Kush; Kahoud, Robert; Lai, Yi-Chen; McDonough, Tiffani L.; Mikati, Mohamad A.; Morgan, Lindsey A.; Novotny, Edward J.; Ostendorf, Adam P.; Payne, Eric T.; Peariso, Katrina; Piantino, Juan; Reece, Latania; Riviello, James J.; Sands, Tristan T.; Sannagowdara, Kumar; Shellhaas, Renee; Smith, Garnett; Tasker, Robert C.; Tchapyjnikov, Dmitry; Topjian, Alexis A.; Wainwright, Mark S.; Wilfong, Angus; Williams, Korwyn; Zhang, Bo; Loddenkemper, Tobias 分享 收藏
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