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Page 1
ILAE neonatal seizure framework to aide in determining etiology.
Yozawitz EG, Cilio MR, Mizrahi EM, Moon JY, Moshé SL, Nunes ML, Plouin P, Zuberi S, Pressler RM. Yozawitz EG, et al. Among authors: cilio mr. Epileptic Disord. 2024 Nov 27. doi: 10.1002/epd2.20312. Online ahead of print. Epileptic Disord. 2024. PMID: 39601188
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke.
Pegoraro V, Viellevoye R, Malfilatre G, Dilena R, Proietti J, Mauro I, Zardini C, Dzietko M, Lacan L, Desnous B, Cordelli DM, Campi F, Da Silva MR, Fumagalli M, Nguyen The Tich S, Felderhoff-Müser U, Ventura G, Sartori S, Benders M, Pittini C, Cavicchiolo ME, Milh M, Cantalupo G, van Maanen A, Tataranno ML, Cilio MR. Pegoraro V, et al. Among authors: cilio mr. Epilepsia. 2024 Nov 23. doi: 10.1111/epi.18194. Online ahead of print. Epilepsia. 2024. PMID: 39579039
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Asperger's syndrome - about time to rename it?
Bearer C, Abman SH, Agostoni C, Ballard P, Bliss J, de Boode WP, Canpolat FE, Chalak L, Cilio MR, Dammann O, Davis J, El-Metwally D, Ferriero D, Ford S, Fuentes-Afflick E, Gano D, Giussani D, Gonzalez F, Gunn A, Hogeveen M, Huang AY, Kaplan J, Klebanoff M, Lachman P, Mak R, Malhotra A, Miller S, Mitchell WB, Molloy E, Mulkey SB, Roland D, Sampath V, Sant'Anna G, Schaff P, Singer LT, Stroustrup A, Tingay D, Tiribelli C, Toldi G, Tryggestad J, Valente EM, Wilson-Costello D, Zupancic J. Bearer C, et al. Among authors: cilio mr. Pediatr Res. 2024 Feb;95(3):582-584. doi: 10.1038/s41390-023-02885-8. Epub 2023 Nov 13. Pediatr Res. 2024. PMID: 37957241 No abstract available.
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H. Pressler RM, et al. Among authors: cilio mr. Epilepsia. 2023 Oct;64(10):2550-2570. doi: 10.1111/epi.17745. Epub 2023 Sep 1. Epilepsia. 2023. PMID: 37655702
A novel approach to seizures in neonates.
Carapancea E, Cilio MR. Carapancea E, et al. Among authors: cilio mr. Eur J Paediatr Neurol. 2023 Sep;46:89-97. doi: 10.1016/j.ejpn.2023.07.006. Epub 2023 Jul 27. Eur J Paediatr Neurol. 2023. PMID: 37544258 Review.
117 results