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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. Among authors: renaldo robin f. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29. Epilepsia. 2015. PMID: 26514728 Free article.
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V. Calmels N, et al. Among authors: renaldo robin f. Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0. Orphanet J Rare Dis. 2016. PMID: 27004399 Free PMC article.