Elsa Rossignol, Ph.D/MD - Publications

Affiliations: 
Neurosciences Université de Montréal, Montréal, Canada 
Area:
Epilepsy
Website:
https://recherche.chusj.org/fr/Axes-de-recherche/Bio?id=5b83741d-1d9c-447f-8498-c8f3f5cc3126

27/61 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Toudji I, Toumi A, Chamberland É, Rossignol E. Interneuron odyssey: molecular mechanisms of tangential migration. Frontiers in Neural Circuits. 17: 1256455. PMID 37779671 DOI: 10.3389/fncir.2023.1256455  0.342
2021 Lupien-Meilleur A, Jiang X, Lachance M, Taschereau-Dumouchel V, Gagnon L, Vanasse C, Lacaille JC, Rossignol E. Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders. Molecular Psychiatry. PMID 34127816 DOI: 10.1038/s41380-021-01175-1  0.386
2019 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. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. PMID 31468518 DOI: 10.1111/Epi.16316  0.386
2019 Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, ... ... Rossignol E, et al. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. American Journal of Human Genetics. PMID 31256876 DOI: 10.1016/J.Ajhg.2019.05.019  0.405
2019 Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Rossignol E, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022  0.445
2018 Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, et al. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Human Molecular Genetics. PMID 30335140 DOI: 10.1093/Hmg/Ddy370  0.445
2018 Jiang X, Lupien-Meilleur A, Tazerart S, Lachance M, Samarova E, Araya R, Lacaille JC, Rossignol E. Remodeled cortical inhibition prevents motor seizures in generalized epilepsy. Annals of Neurology. PMID 30048010 DOI: 10.1002/Ana.25301  0.601
2018 Eid L, Lachance M, Hickson G, Rossignol E. Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons. Journal of Visualized Experiments : Jove. PMID 29733310 DOI: 10.3791/57526  0.371
2017 Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, et al. FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis. Human Molecular Genetics. PMID 29267967 DOI: 10.1093/Hmg/Ddx426  0.398
2017 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, ... ... Rossignol E, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008  0.369
2017 Desnous B, Arbour M, Nguyen HS, Lortie A, Chartrand D, Rossignol E, Diadori P, Major P, Carmant L, Birca A. 3. Asymmetric hypsarrythmia: An insight into the pathophysiology of infantile spasms. A retrospective cohort Clinical Neurophysiology. 128. DOI: 10.1016/J.Clinph.2017.08.012  0.318
2016 Jiang X, Lachance M, Rossignol E. Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy. Progress in Brain Research. 226: 81-126. PMID 27323940 DOI: 10.1016/Bs.Pbr.2016.04.012  0.449
2015 Hamdan FF, Perrault I, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 119-20. PMID 26531641 DOI: 10.1016/J.Ijdevneu.2015.04.319  0.416
2015 Kim DT, Rossignol E, Najem K, Ospina LH. Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 19: 478-9. PMID 26486037 DOI: 10.1016/J.Jaapos.2015.05.015  0.31
2015 Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL. A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. Human Mutation. 36: 753-7. PMID 25864427 DOI: 10.1002/Humu.22797  0.345
2015 Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. European Journal of Human Genetics : Ejhg. 23: 1505-12. PMID 25735478 DOI: 10.1038/Ejhg.2015.21  0.398
2015 Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation. 36: 69-78. PMID 25265257 DOI: 10.1002/Humu.22709  0.332
2014 Rossignol E, Kobow K, Simonato M, Loeb JA, Grisar T, Gilby KL, Vinet J, Kadam SD, Becker AJ. WONOEP appraisal: new genetic approaches to study epilepsy. Epilepsia. 55: 1170-86. PMID 24965021 DOI: 10.1111/Epi.12692  0.403
2014 Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics. 94: 891-7. PMID 24814191 DOI: 10.1016/J.Ajhg.2014.04.012  0.402
2014 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. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/Hmg/Ddu199  0.327
2014 Meijer IA, Vanasse M, Nizard S, Robitaille Y, Rossignol E. An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder. Muscle & Nerve. 49: 134-8. PMID 23893323 DOI: 10.1002/Mus.23968  0.304
2013 Rossignol E, Kruglikov I, Van Den Maagdenberg AMJM, Rudy B, Fishell G. CaV2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures Annals of Neurology. 74: 209-222. PMID 23595603 DOI: 10.1002/Ana.23913  0.628
2012 Close J, Xu H, De Marco García N, Batista-Brito R, Rossignol E, Rudy B, Fishell G. Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 17690-705. PMID 23223290 DOI: 10.1523/Jneurosci.3583-12.2012  0.596
2011 Rossignol E. Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. Neural Plasticity. 2011: 649325. PMID 21876820 DOI: 10.1155/2011/649325  0.309
2009 Batista-Brito R, Rossignol E, Hjerling-Leffler J, Denaxa M, Wegner M, Lefebvre V, Pachnis V, Fishell G. The cell-intrinsic requirement of Sox6 for cortical interneuron development. Neuron. 63: 466-81. PMID 19709629 DOI: 10.1016/J.Neuron.2009.08.005  0.657
2009 Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscular Disorders : Nmd. 19: 330-4. PMID 18337100 DOI: 10.1016/J.Nmd.2008.01.007  0.329
2007 Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 69: 1937-41. PMID 17998485 DOI: 10.1212/01.Wnl.0000290831.08585.2C  0.338
Low-probability matches (unlikely to be authored by this person)
2015 Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Molecular Genetics and Metabolism Reports. 5: 85-88. PMID 28649549 DOI: 10.1016/J.Ymgmr.2015.10.010  0.297
2018 Barton M, Simard M, Reiter-Campeau S, Lupien G, Lamothe M, Chartrand D, Saint-Louis M, Lortie A, Major P, Diadori P, Birca A, Rossignol E, Carmant L. VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3 Paediatrics & Child Health. 23: e51-e52. DOI: 10.1093/Pch/Pxy054.131  0.288
2014 Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Vanishing white matter disease in French-Canadian patients from Quebec. Pediatric Neurology. 51: 225-32. PMID 25079571 DOI: 10.1016/J.Pediatrneurol.2014.05.006  0.281
2015 Toupin JF, Lortie A, Major P, Diadori P, Vanasse M, Rossignol E, D'Anjou G, Perreault S, Larbrisseau A, Carmant L, Birca A. Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study. Epileptic Disorders : International Epilepsy Journal With Videotape. PMID 26609635 DOI: 10.1684/Epd.2015.0782  0.277
2018 Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, et al. Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology. PMID 29518281 DOI: 10.1002/Ana.25204  0.273
2018 Eid L, Raju PK, Rossignol E. PHACTRing in actin: actin deregulation in genetic epilepsies. Brain : a Journal of Neurology. 141: 3084-3088. PMID 30364981 DOI: 10.1093/Brain/Awy272  0.263
2023 Rousseau J, Tene Tadoum SB, Lavertu Jolin M, Nguyen TTM, Ajeawung NF, Flenniken AM, Nutter LMJ, Vukobradovic I, Rossignol E, Campeau PM. The DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice. Genes. 14. PMID 37628590 DOI: 10.3390/genes14081538  0.262
2017 Raffa L, Matton MP, Michaud J, Rossignol E, Decarie JC, Ospina LH. Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 52: e169-e171. PMID 28985824 DOI: 10.1016/J.Jcjo.2017.02.021  0.247
2018 Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, ... ... Rossignol E, et al. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30206421 DOI: 10.1038/S41436-018-0268-1  0.24
2013 Vanasse M, Rossignol E, Hadad E. Chronic inflammatory demyelinating polyneuropathy. Handbook of Clinical Neurology. 112: 1163-9. PMID 23622325 DOI: 10.1016/B978-0-444-52910-7.00037-4  0.235
2022 Shelihan I, Rossignol E, Décarie JC, Bonnefont JP, Brivet M, Brunel-Guitton C, Mitchell GA. Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development. Jimd Reports. 63: 3-10. PMID 35028265 DOI: 10.1002/jmd2.12243  0.227
2018 Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, ... ... Rossignol E, et al. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. Pediatric Neurology. PMID 29859719 DOI: 10.1016/J.Pediatrneurol.2018.03.015  0.221
2020 Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, ... ... Rossignol E, et al. Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study. Journal of Child Neurology. 883073820938645. PMID 32720856 DOI: 10.1177/0883073820938645  0.218
2007 Rossignol E, D'Anjou G, Lapointe N, Haddad E, Vanasse M. Evolution and treatment of childhood chronic inflammatory polyneuropathy. Pediatric Neurology. 36: 88-94. PMID 17275659 DOI: 10.1016/J.Pediatrneurol.2006.09.012  0.214
2018 Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, ... ... Rossignol E, et al. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30279470 DOI: 10.1038/S41436-018-0327-7  0.211
2015 Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy Molecular Genetics and Metabolism Reports. 5: 85-88. DOI: 10.1016/j.ymgmr.2015.10.010  0.171
2020 Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, ... ... Rossignol E, et al. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. PMID 33280099 DOI: 10.1111/epi.16784  0.166
2009 Rossignol E, Lortie A, Thomas T, Bouthiller A, Scavarda D, Mercier C, Carmant L. Vagus nerve stimulation in pediatric epileptic syndromes. Seizure. 18: 34-7. PMID 18657451 DOI: 10.1016/j.seizure.2008.06.010  0.164
2023 Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, et al. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in , and . Journal of Medical Genetics. PMID 37197783 DOI: 10.1136/jmg-2023-109223  0.144
2015 Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA. Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy. Jimd Reports. 22: 67-75. PMID 25762494 DOI: 10.1007/8904_2015_413  0.117
2012 Patel JC, Rossignol E, Rice ME, Machold RP. Opposing regulation of dopaminergic activity and exploratory motor behavior by forebrain and brainstem cholinergic circuits. Nature Communications. 3: 1172. PMID 23132022 DOI: 10.1038/ncomms2144  0.114
2023 Hüsser AM, Vannasing P, Tremblay J, Osterman B, Lortie A, Diadori P, Major P, Rossignol E, Roger K, Fourdain S, Provost S, Maalouf Y, Nguyen DK, Gallagher A. Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy. Frontiers in Human Neuroscience. 17: 1253529. PMID 37964801 DOI: 10.3389/fnhum.2023.1253529  0.11
2020 Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, ... ... Rossignol E, et al. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. The Journal of Clinical Endocrinology and Metabolism. PMID 33005949 DOI: 10.1210/clinem/dgaa700  0.089
2023 Topolnik L, Di Cristo G, Rossignol E. Editorial: GABAergic circuits in health and disease. Frontiers in Neural Circuits. 17: 1322193. PMID 38024809 DOI: 10.3389/fncir.2023.1322193  0.081
1997 Amar J, Vernier I, Rossignol E, Lenfant V, Conte JJ, Chamontin B. Influence of nycthemeral blood pressure pattern in treated hypertensive patients on hemodialysis. Kidney International. 51: 1863-6. PMID 9186876 DOI: 10.1038/KI.1997.254  0.071
2017 Robert J, Sorrieul J, Rossignol E, Beaussart H, Kieffer H, Folliard C, Dupoiron D, Devys C. Chemical Stability of Morphine, Ropivacaine, and Ziconotide in Combination for Intrathecal Analgesia. International Journal of Pharmaceutical Compounding. 21: 347-351. PMID 28719378  0.056
2023 Boudjani H, Fadda G, Dufort G, Antel J, Giacomini P, Levesque-Roy M, Oskoui M, Duquette P, Prat A, Girard M, Rebillard RM, Meijer I, Pinchefsky E, Nguyen CE, Rossignol E, et al. Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated disease. Multiple Sclerosis and Related Disorders. 76: 104787. PMID 37320939 DOI: 10.1016/j.msard.2023.104787  0.048
2000 Amar J, Vernier I, Rossignol E, Bongard V, Arnaud C, Conte JJ, Salvador M, Chamontin B. Nocturnal blood pressure and 24-hour pulse pressure are potent indicators of mortality in hemodialysis patients. Kidney International. 57: 2485-91. PMID 10844617 DOI: 10.1046/J.1523-1755.2000.00107.X  0.048
2023 Lamoureux AA, Ducharme-Crevier L, Lacelle-Webster F, Jouvet P, Boivin J, Lavoie A, Rossignol E. Pediatric Delirium: An Overlooked Diagnosis? Pediatric Neurology. 145: 48-53. PMID 37271057 DOI: 10.1016/j.pediatrneurol.2023.04.001  0.04
2007 Mercier C, Scavarda D, Rossignol E, Lortie A, Carmant L. Stimulation vagale et épilepsie pédiatrique réfractaire. Étude prospective d'efficacité et de sa tolérance dans une population pédiatrique Neurochirurgie. 53: 326-327. DOI: 10.1016/j.neuchi.2007.07.012  0.037
2019 Bobin-Dubigeon C, Campone M, Rossignol E, Salaun E, Amiand MB, Bard JM. New UPLC-MS/MS assay for the determination of tamoxifen and its metabolites in human plasma, application to patients. Future Science Oa. 5: FSO374. PMID 31245038 DOI: 10.2144/fsoa-2018-0113  0.023
2022 Pépin MA, Otis AS, Tremblay Z, Boulé M, Lebel D, Major P, Lortie A, Pinchefsky E, Rossignol E, Carleton B, Bussières JF, Métras MÉ. Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions. Personalized Medicine. PMID 35830229 DOI: 10.2217/pme-2021-0150  0.022
2016 Rossignol E, Carmant L, Lacaille JC. Preface. Progress in Brain Research. 226: xi-xii. PMID 27323946 DOI: 10.1016/S0079-6123(16)30073-5  0.01
1991 Cailliez M, Aljabi D, Lawrence C, Layac C, Porte P, Fraisse F, Denance A, Rossignol E. Etude de la couverture vaccinale antitétanique des blessés: Intérêt du Vacci-test® MéDecine Et Maladies Infectieuses. 21: 27-31. DOI: 10.1016/S0399-077X(05)80228-8  0.01
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