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Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.
Dyment DA, Schock SC, Deloughery K, Tran MH, Ure K, Nutter LMJ, Creighton A, Yuan J, Banderali U, Comas T, Baumann E, Jezierski A; Care4Rare Canada Consortium,; Boycott KM, Mackenzie AE, Martina M. Dyment DA, et al. Among authors: boycott km. Genetics. 2020 Aug;215(4):1055-1066. doi: 10.1534/genetics.120.303399. Epub 2020 Jun 17. Genetics. 2020. PMID: 32554600 Free PMC article.
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium; Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA. Vanstone JR, et al. Among authors: boycott km. Eur J Hum Genet. 2016 Jul;24(7):1084-8. doi: 10.1038/ejhg.2015.243. Epub 2015 Nov 25. Eur J Hum Genet. 2016. PMID: 26604000 Free PMC article.
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: boycott km. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
278 results