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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Di Meglio C, et al. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29. Epilepsia. 2015. PMID: 26514728 Free article.
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
Dozieres-Puyravel B, Nasser H, Mauvais FX, De Saint Martin A, Perriard C, Di Meglio C, Cances C, Hachon-LE Camus C, Milh M, Auvin S. Dozieres-Puyravel B, et al. Among authors: di meglio c. Eur J Paediatr Neurol. 2024 Jan;48:61-66. doi: 10.1016/j.ejpn.2023.11.009. Epub 2023 Nov 27. Eur J Paediatr Neurol. 2024. PMID: 38041897 Clinical Trial.
A rare chest tumor in a 7-year old girl with a neurodegenerative disease.
Benhaïm-Mattout E, Cano A, Di Meglio C, Bosdure E, Chabrol B, Dubus JC. Benhaïm-Mattout E, et al. Among authors: di meglio c. Respir Med Case Rep. 2022 Apr 2;37:101648. doi: 10.1016/j.rmcr.2022.101648. eCollection 2022. Respir Med Case Rep. 2022. PMID: 35433248 Free PMC article.
Eculizumab treatment in severe pediatric STEC-HUS: a multicenter retrospective study.
Percheron L, Gramada R, Tellier S, Salomon R, Harambat J, Llanas B, Fila M, Allain-Launay E, Lapeyraque AL, Leroy V, Adra AL, Bérard E, Bourdat-Michel G, Chehade H, Eckart P, Merieau E, Piètrement C, Sellier-Leclerc AL, Frémeaux-Bacchi V, Dimeglio C, Garnier A. Percheron L, et al. Pediatr Nephrol. 2018 Aug;33(8):1385-1394. doi: 10.1007/s00467-018-3903-9. Epub 2018 Mar 23. Pediatr Nephrol. 2018. PMID: 29572749
78 results