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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: dupont s. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.
Kuchenbuch M, D'Onofrio G, Wirrell E, Jiang Y, Dupont S, Grinspan ZM, Auvin S, Wilmshurst JM, Arzimanoglou A, Cross JH, Specchio N, Nabbout R. Kuchenbuch M, et al. Among authors: dupont s. Epilepsy Behav. 2020 Nov;112:107376. doi: 10.1016/j.yebeh.2020.107376. Epub 2020 Aug 31. Epilepsy Behav. 2020. PMID: 32882627 Free PMC article.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R. Bar C, et al. Among authors: dupont s. Epilepsy Behav. 2022 Jan;126:108471. doi: 10.1016/j.yebeh.2021.108471. Epub 2021 Dec 13. Epilepsy Behav. 2022. PMID: 34915430 Free article.
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. Among authors: dupont s. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
[Epilepsy: A public health issue].
Dupont S. Dupont S. Presse Med. 2018 Mar;47(3):216-217. doi: 10.1016/j.lpm.2018.02.019. Epub 2018 Mar 13. Presse Med. 2018. PMID: 29548766 French. No abstract available.
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.
Vasseur F, Helbecque N, Dina C, Lobbens S, Delannoy V, Gaget S, Boutin P, Vaxillaire M, Leprêtre F, Dupont S, Hara K, Clément K, Bihain B, Kadowaki T, Froguel P. Vasseur F, et al. Among authors: dupont s. Hum Mol Genet. 2002 Oct 1;11(21):2607-14. doi: 10.1093/hmg/11.21.2607. Hum Mol Genet. 2002. PMID: 12354786
How are epileptic events linked to obstructive sleep apneas in epilepsy?
Nguyen-Michel VH, Pallanca O, Navarro V, Dupont S, Baulac M, Adam C. Nguyen-Michel VH, et al. Among authors: dupont s. Seizure. 2015 Jan;24:121-3. doi: 10.1016/j.seizure.2014.09.004. Epub 2014 Sep 16. Seizure. 2015. PMID: 25288133 Free article. No abstract available.
Amnesia, memory disturbances and epilepsy.
Kambaja B, Dupont S. Kambaja B, et al. Among authors: dupont s. Geriatr Psychol Neuropsychiatr Vieil. 2016 Dec 1;14(4):415-419. doi: 10.1684/pnv.2016.0633. Geriatr Psychol Neuropsychiatr Vieil. 2016. PMID: 27976620 Review. English.
Microglial phenotypes in the human epileptic temporal lobe.
Morin-Brureau M, Milior G, Royer J, Chali F, Le Duigou C, Savary E, Blugeon C, Jourdren L, Akbar D, Dupont S, Navarro V, Baulac M, Bielle F, Mathon B, Clemenceau S, Miles R. Morin-Brureau M, et al. Among authors: dupont s. Brain. 2018 Dec 1;141(12):3343-3360. doi: 10.1093/brain/awy276. Brain. 2018. PMID: 30462183 Free PMC article.
634 results