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Year Number of Results
2010 1
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2013 4
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2019 13
2020 12
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2023 10
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86 results

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Page 1
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Among authors: terrone g. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
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: terrone g. 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.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: terrone g. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: terrone g. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Tripathy R, et al. Among authors: terrone g. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15. Neuron. 2018. PMID: 30449657 Free PMC article.
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: terrone g. Eur J Paediatr Neurol. 2025 Jan;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Epub 2024 Nov 23. Eur J Paediatr Neurol. 2025. PMID: 39603091
Preventing epileptogenesis: A realistic goal?
Terrone G, Pauletti A, Pascente R, Vezzani A. Terrone G, et al. Pharmacol Res. 2016 Aug;110:96-100. doi: 10.1016/j.phrs.2016.05.009. Epub 2016 May 10. Pharmacol Res. 2016. PMID: 27173399 Review.
86 results