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1994 1
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44 results

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Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: bebin m. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
It's About Time! Timing in Epilepsy Evaluation and Treatment.
McKee HR, Vidaurre J, Clarke D, Wagner J, W Britton J, Laux L, Trinka E, Rubinos C, McDonald TJW, Lado FA, Bebin M, Papadelis C, Struck AF, Maciel CB, Velasco AL, Chandran A, Pati S, Tandon N, Vaca GF, Berl MM, Moosa AN. McKee HR, et al. Among authors: bebin m. Epilepsy Curr. 2024 Apr 1:15357597241238072. doi: 10.1177/15357597241238072. Online ahead of print. Epilepsy Curr. 2024. PMID: 39554272 Free PMC article. Review.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: bebin m. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Fahed AC, McDonough B, Gouvion CM, Newell KL, Dure LS, Bebin M, Bick AG, Seidman JG, Harter DH, Seidman CE. Fahed AC, et al. Among authors: bebin m. Ann Neurol. 2014 May;75(5):793-798. doi: 10.1002/ana.24164. Epub 2014 May 9. Ann Neurol. 2014. PMID: 24771548 Free PMC article.
Antiepileptogenesis and disease modification: Clinical and regulatory issues.
French JA, Bebin M, Dichter MA, Engel J Jr, Hartman AL, Jóźwiak S, Klein P, McNamara J Sr, Twyman R, Vespa P. French JA, et al. Among authors: bebin m. Epilepsia Open. 2021 Sep;6(3):483-492. doi: 10.1002/epi4.12526. Epub 2021 Jul 29. Epilepsia Open. 2021. PMID: 34270884 Free PMC article.
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H; TACERN Study Group. Farach LS, et al. Pediatr Neurol. 2019 Jul;96:58-63. doi: 10.1016/j.pediatrneurol.2019.03.003. Epub 2019 Mar 13. Pediatr Neurol. 2019. PMID: 31005478 Free PMC article.
44 results