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1994 1
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39 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.
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: bebin m. Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22903760
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.
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.
Pediatric partial and generalized seizures.
Bebin M. Bebin M. J Child Neurol. 2002 Jan;17 Suppl 1:S65-9. doi: 10.1177/08830738020170010901. J Child Neurol. 2002. PMID: 11918466 Review.
Mood and Anxiety Disorders and Suicidality in Patients With Newly Diagnosed Focal Epilepsy: An Analysis of a Complex Comorbidity.
Kanner AM, Saporta AS, Kim DH, Barry JJ, Altalib H, Omotola H, Jette N, O'Brien TJ, Nadkarni S, Winawer MR, Sperling M, French JA, Abou-Khalil B, Alldredge B, Bebin M, Cascino GD, Cole AJ, Cook MJ, Detyniecki K, Devinsky O, Dlugos D, Faught E, Ficker D, Fields M, Gidal B, Gelfand M, Glynn S, Halford JJ, Haut S, Hegde M, Holmes MG, Kalviainen R, Kang J, Klein P, Knowlton RC, Krishnamurthy K, Kuzniecky R, Kwan P, Lowenstein DH, Marcuse L, Meador KJ, Mintzer S, Pardoe HR, Park K, Penovich P, Singh RK, Somerville E, Szabo CA, Szaflarski JP, Lin Thio KL, Trinka E, Burneo JG; Human Epilepsy Project. Kanner AM, et al. Among authors: bebin m. Neurology. 2023 Mar 14;100(11):e1123-e1134. doi: 10.1212/WNL.0000000000201671. Epub 2022 Dec 20. Neurology. 2023. PMID: 36539302 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.
Later onset focal epilepsy with roots in childhood: Evidence from early learning difficulty and brain volumes in the Human Epilepsy Project.
Pellinen J, Pardoe H, Sillau S, Barnard S, French J, Knowlton R, Lowenstein D, Cascino GD, Glynn S, Jackson G, Szaflarski J, Morrison C, Meador KJ, Kuzniecky R; Human Epilepsy Project Investigators. Pellinen J, et al. Epilepsia. 2023 Oct;64(10):2761-2770. doi: 10.1111/epi.17727. Epub 2023 Aug 4. Epilepsia. 2023. PMID: 37517050
39 results