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Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: vavassori r. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: vavassori r. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767 Free article.
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.
Patel SH, Panagiotakaki E, Papadopoulou MT, Fons C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R, Mikati MA. Patel SH, et al. Among authors: vavassori r. J Child Neurol. 2023 Oct;38(10-12):597-610. doi: 10.1177/08830738231197861. Epub 2023 Sep 20. J Child Neurol. 2023. PMID: 37728088
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Sentmanat MK, Papadopoulou MT, Prange L, Fons C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S; IAHCRC OBSERV-AHC Study Group; Arzimanoglou A, Vavassori R, Panagiotakaki E, Mikati MA. Sentmanat MK, et al. Among authors: vavassori r. Eur J Paediatr Neurol. 2023 Sep;46:98-107. doi: 10.1016/j.ejpn.2023.07.005. Epub 2023 Aug 4. Eur J Paediatr Neurol. 2023. PMID: 37562161
Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE.
Nott E, Behl KE, Brambilla I, Green TE, Lucente M, Vavassori R, Watson A, Dalla Bernardina B, Hildebrand MS. Nott E, et al. Among authors: vavassori r. Eur J Med Genet. 2023 Mar;66(3):104680. doi: 10.1016/j.ejmg.2022.104680. Epub 2023 Jan 6. Eur J Med Genet. 2023. PMID: 36623768 No abstract available.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R; Duke AHC Research Group; French AHC Consortium; Arzimanoglou A, Panagiotakaki E, Mikati MA. Uchitel J, et al. Among authors: vavassori r. Brain Commun. 2021 Jun 4;3(3):fcab128. doi: 10.1093/braincomms/fcab128. eCollection 2021. Brain Commun. 2021. PMID: 34396101 Free PMC article.
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. Balestrini S, et al. Among authors: vavassori r. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913013 Free PMC article.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Among authors: vavassori r. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
15 results