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Page 1
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: rivera s. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. Cabasson S, et al. Among authors: rivera s. Eur J Paediatr Neurol. 2020 Sep;28:214-220. doi: 10.1016/j.ejpn.2020.06.002. Epub 2020 Jun 28. Eur J Paediatr Neurol. 2020. PMID: 32694024
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: rivera s. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Congenital hyperekplexia: five sporadic cases.
Rivera S, Villega F, de Saint-Martin A, Matis J, Escande B, Chaigne D, Astruc D. Rivera S, et al. Eur J Pediatr. 2006 Feb;165(2):104-7. doi: 10.1007/s00431-005-0015-x. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211400
Neonatal necrotizing tracheobronchitis: three case reports.
Gaugler C, Astruc D, Donato L, Rivera S, Langlet C, Messer J. Gaugler C, et al. Among authors: rivera s. J Perinatol. 2004 Apr;24(4):259-60. doi: 10.1038/sj.jp.7211041. J Perinatol. 2004. PMID: 15067297
744 results