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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Lehman A, et al. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC article.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ. Guella I, et al. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Demos M, et al. Among authors: boelman c. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada.
Appendino JP, Boelman C, Brna PM, Burneo JG, Claassen CS, Connolly MB, De Guzman MVT, Federico P, Floyd D, Huntsman RJ, Javidan M, Jette N, Jurasek LL, Keezer MR, Lau JC, McCoy B, McLachlan RS, Ng MC, Nguyen DK, Reid AY, Rho JM, Snead OC, Téllez-Zenteno JF, Wang L, Zak MM. Appendino JP, et al. Among authors: boelman c. Can J Neurol Sci. 2019 Nov;46(6):645-652. doi: 10.1017/cjn.2019.282. Can J Neurol Sci. 2019. PMID: 31466531 Review.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Effect of Training on Visual Identification of High Frequency Oscillations-A Delphi-Style Intervention.
Spring AM, Pittman DJ, Rizwan A, Aghakhani Y, Jirsch J, Connolly M, Wiebe S, Appendino JP, Datta A, Steve T, Pillay N, Javidan M, Scantlebury M, Hrazdil C, Josephson CB, Boelman C, Gross D, Singh S, Bello-Espinosa L, Huh L, Jetté N, Federico P. Spring AM, et al. Among authors: boelman c. Front Neurol. 2022 Feb 14;13:794668. doi: 10.3389/fneur.2022.794668. eCollection 2022. Front Neurol. 2022. PMID: 35237228 Free PMC article.
39 results