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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: lortie a. 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.
Isolated angiitis of the CNS in children.
Lanthier S, Lortie A, Michaud J, Laxer R, Jay V, deVeber G. Lanthier S, et al. Among authors: lortie a. Neurology. 2001 Apr 10;56(7):837-42. doi: 10.1212/wnl.56.7.837. Neurology. 2001. PMID: 11314698
The pathological basis of temporal lobe epilepsy in childhood.
Bocti C, Robitaille Y, Diadori P, Lortie A, Mercier C, Bouthillier A, Carmant L. Bocti C, et al. Among authors: lortie a. Neurology. 2003 Jan 28;60(2):191-5. doi: 10.1212/01.wnl.0000044055.73747.9f. Neurology. 2003. PMID: 12552029
Autosomal dominant juvenile myoclonic epilepsy and GABRA1.
Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA. Cossette P, et al. Among authors: lortie a. Adv Neurol. 2005;95:255-63. Adv Neurol. 2005. PMID: 15508928 Review. No abstract available.
Recurrent pancreatitis in mitochondrial cytopathy.
Debray FG, Drouin E, Herzog D, Lortie A, Lambert M, Garel L, Mitchell GA, Michaud JL. Debray FG, et al. Among authors: lortie a. Am J Med Genet A. 2006 Nov 1;140(21):2330-5. doi: 10.1002/ajmg.a.31457. Am J Med Genet A. 2006. PMID: 17022070 Review.
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