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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1992 2
1995 3
2005 1
2007 1
2008 4
2009 7
2010 6
2011 4
2012 4
2013 2
2014 5
2015 5
2016 4
2017 2
2018 3
2019 3
2020 6
2021 5
2022 5
2023 6
2024 7
2025 6

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80 results

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Page 1
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: fons c. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: fons c. Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, 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, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA, Landstrom AP. Moya-Mendez ME, et al. Among authors: fons c. JAMA Pediatr. 2025 May 1;179(5):529-539. doi: 10.1001/jamapediatrics.2024.6832. JAMA Pediatr. 2025. PMID: 40029639
Creatine Defects and Central Nervous System.
Fons C, Campistol J. Fons C, et al. Semin Pediatr Neurol. 2016 Nov;23(4):285-289. doi: 10.1016/j.spen.2016.11.003. Epub 2016 Nov 17. Semin Pediatr Neurol. 2016. PMID: 28284390 Review.
[A strange visitor…].
Schneider C, Fons C, Ferveur MO, Basset D. Schneider C, et al. Among authors: fons c. Presse Med. 2017 May;46(5):553-555. doi: 10.1016/j.lpm.2017.03.014. Epub 2017 May 5. Presse Med. 2017. PMID: 28483288 French. No abstract available.
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
Serafim AB, Olivé-Cirera G, Ortega-González Á, Kruer MC, Weese-Mayer D, Rand CM, Fons C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangué T, Sabater L. Serafim AB, et al. Among authors: fons c. Neurol Neuroimmunol Neuroinflamm. 2024 Sep;11(5):e200276. doi: 10.1212/NXI.0000000000200276. Epub 2024 Jun 25. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38917381 Free PMC article.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.
Casas-Alba D, Oliva C, Salgado MDC, Codina A, Agut T, García-Alix A, Garcia-Puig M, García-Cazorla À, Taglialatela M, Jou C, Artuch R, Fons C. Casas-Alba D, et al. Among authors: fons c. Pediatr Neurol. 2022 Mar;128:16-19. doi: 10.1016/j.pediatrneurol.2021.11.013. Epub 2021 Dec 6. Pediatr Neurol. 2022. PMID: 35032885
Broadening the spectrum of neonatal hemochromatosis.
Casas-Alba D, Clotet J, Inarejos EJ, Jou C, Fons C, Molera C. Casas-Alba D, et al. Among authors: fons c. J Matern Fetal Neonatal Med. 2020 Mar;33(6):1024-1026. doi: 10.1080/14767058.2018.1506442. Epub 2018 Sep 10. J Matern Fetal Neonatal Med. 2020. PMID: 30058407
80 results