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Page 1
Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC. Myers CT, et al. N Engl J Med. 2018 Apr 26;378(17):1646-1648. doi: 10.1056/NEJMc1714579. N Engl J Med. 2018. PMID: 29694806 Free PMC article. No abstract available.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Mefford HC, Sol-Church K. LaCroix AJ, et al. Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13. Am J Hum Genet. 2019. PMID: 30554721 Free PMC article.
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Among authors: lacroix aj. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
14 results