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The genetic landscape of infantile spasms.
Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. Michaud JL, et al. Among authors: rossignol e. Hum Mol Genet. 2014 Sep 15;23(18):4846-58. doi: 10.1093/hmg/ddu199. Epub 2014 Apr 29. Hum Mol Genet. 2014. PMID: 24781210
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E. Jiang X, et al. Among authors: rossignol e. Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub 2019 Aug 29. Epilepsia. 2019. PMID: 31468518
Interneuron odyssey: molecular mechanisms of tangential migration.
Toudji I, Toumi A, Chamberland É, Rossignol E. Toudji I, et al. Among authors: rossignol e. Front Neural Circuits. 2023 Sep 14;17:1256455. doi: 10.3389/fncir.2023.1256455. eCollection 2023. Front Neural Circuits. 2023. PMID: 37779671 Free PMC article. Review.
WONOEP appraisal: new genetic approaches to study epilepsy.
Rossignol E, Kobow K, Simonato M, Loeb JA, Grisar T, Gilby KL, Vinet J, Kadam SD, Becker AJ. Rossignol E, et al. Epilepsia. 2014 Aug;55(8):1170-86. doi: 10.1111/epi.12692. Epub 2014 Jun 25. Epilepsia. 2014. PMID: 24965021 Free PMC article. Review.
107 results