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64 results

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Page 1
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Among authors: chemaly n. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Among authors: chemaly n. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A… See abstract for full author list ➔ Leitão E, et al. Among authors: chemaly n. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
[Epidemicology des epilepsies].
Chemaly N, Nabbout R. Chemaly N, et al. Rev Prat. 2012 Dec;62(10):1388-9. Rev Prat. 2012. PMID: 23424918 Review. French. No abstract available.
SYNGAP1-DEE: A visual sensitive epilepsy.
Lo Barco T, Kaminska A, Solazzi R, Cancés C, Barcia G, Chemaly N, Fontana E, Desguerre I, Canafoglia L, Hachon Le Camus C, Losito E, Villard L, Eisermann M, Dalla Bernardina B, Villeneuve N, Nabbout R. Lo Barco T, et al. Among authors: chemaly n. Clin Neurophysiol. 2021 Apr;132(4):841-850. doi: 10.1016/j.clinph.2021.01.014. Epub 2021 Feb 3. Clin Neurophysiol. 2021. PMID: 33639450
Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.
Bakouh N, Castaño-Martín R, Metais A, Dan EL, Balducci E, Chhuon C, Lepicka J, Barcia G, Losito E, Lourdel S, Planelles G, Muresan RC, Moca VV, Kaminska A, Bourgeois M, Chemaly N, Rguez Y, Auvin S, Huberfeld G, Varlet P, Asnafi V, Guerrera IC, Kabashi E, Nabbout R, Ciura S, Blauwblomme T. Bakouh N, et al. Among authors: chemaly n. Brain. 2025 Feb 3;148(2):549-563. doi: 10.1093/brain/awae262. Brain. 2025. PMID: 39106285 Free PMC article.
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G, Chemaly N, Gobin-Limballe S, Losito E, Aubart M, Sarda E, Assouline Z, Plante-Bordeneuve P, Hully M, Barrois R, Barnerias C, Sareidaki D, Zeitoun DC, Eisermann M, Fourrage C, Hanein S, Rio M, Boddaert N, Desguerre I, Kaminska A, Steffann J, Nabbout R. Barcia G, et al. Among authors: chemaly n. Epilepsia Open. 2025 Aug;10(4):1065-1073. doi: 10.1002/epi4.70057. Epub 2025 May 10. Epilepsia Open. 2025. PMID: 40347095 Free PMC article.
64 results