Search Results - "LORTIE, Anne"

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    The combination of subdural and depth electrodes for intracranial EEG investigation of suspected insular (perisylvian) epilepsy by Surbeck, Werner, Bouthillier, Alain, Weil, Alexander G., Crevier, Louis, Carmant, Lionel, Lortie, Anne, Major, Philippe, Nguyen, Dang Khoa

    Published in Epilepsia (Copenhagen) (01-03-2011)
    “…Summary Purpose:  We present two methods of implantation for the investigation of suspected insular and perisylvian epilepsy that combine depth and subdural…”
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    Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy by Brisebois, Katéri, Lortie, Anne, Vanasse, Michel, Carmant, Lionel, Rouleau, Guy A, Verner, Andrei, Cossette, Patrick, Tian Wang, Yu, Liu, Lidong, Lu, Wei-Yang, Saint-Hilaire, Jean-Marc, Dong, Haiheng

    Published in Nature genetics (01-06-2002)
    “…Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy…”
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    Prochlorperazine in children with migraine: a look at its effectiveness and rate of akathisia by Trottier, Evelyne D., MD, Bailey, Benoit, MD, Lucas, Nathalie, MD, Lortie, Anne, MD

    Published in The American journal of emergency medicine (01-03-2012)
    “…Abstract Objective The objective of this study is to evaluate the effectiveness of prochlorperazine and the rate of akathisia in children with severe migraine…”
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    Diagnosis of Migraine in the Pediatric Emergency Department by Trottier, Evelyne D., MD, Bailey, Benoit, MD, MSc, Lucas, Nathalie, MD, Lortie, Anne, MD

    Published in Pediatric neurology (01-07-2013)
    “…Abstract Background Migraine criteria lack sensitivity in children and are not designed to be used in the emergency department. This study's aim was to compare…”
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    Nonlesional Frontal Lobe Epilepsy (FLE) of Childhood: Clinical Presentation, Response to Treatment and Comorbidity by Prévost, Julie, Lortie, Anne, Nguyen, Dang, Lassonde, Maryse, Carmant, Lionel

    Published in Epilepsia (Copenhagen) (01-12-2006)
    “…Rationale: Few studies have looked at long‐term epileptic and cognitive outcome of frontal lobe epilepsy (FLE) in children. Most are limited by inclusion of…”
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    Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene by Martins, Carla, Brunel-Guitton, Catherine, Lortie, Anne, Gauvin, France, Morales, Carlos R., Mitchell, Grant A., Pshezhetsky, Alexey V.

    Published in Molecular genetics and metabolism reports (01-06-2017)
    “…GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside…”
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    Neonatal Seizures: Do They Damage the Brain? by Thibeault-Eybalin, Marie-Pierre, MD, CM, Lortie, Anne, MD, Carmant, Lionel, MD

    Published in Pediatric neurology (01-03-2009)
    “…Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures…”
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    Ataxia-Telangiectasia Presenting With a Novel Immunodeficiency by Perreault, Sébastien, MD, MSc, Bernard, Geneviève, MD, MSc, Lortie, Anne, MD, Le Deist, Françoise, MD, PhD, Decaluwe, Hélène, MD, PhD

    Published in Pediatric neurology (01-05-2012)
    “…Abstract Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and…”
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    Infantile Spasms in Remission May Reemerge as Intractable Epileptic Spasms by Camfield, Peter, Camfield, Carol, Lortie, Anne, Darwish, Husam

    Published in Epilepsia (Copenhagen) (01-12-2003)
    “…Background: West syndrome consists of infantile spasms with hypsarrhythmia and is perceived as a disorder of infants. Methods: We describe 10 patients with…”
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    Characteristics of epilepsy in focal cortical dysplasia in infancy by Lortie, Anne, Plouin, Perrine, Chiron, Catherine, Delalande, Olivier, Dulac, Olivier

    Published in Epilepsy research (01-09-2002)
    “…To describe the poorly known characteristics of epilepsy during infancy in focal cortical dysplasia (FCD), one of the most frequent cause of infantile…”
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    Recurrent pancreatitis in mitochondrial cytopathy by Debray, François‐Guillaume, Drouin, Eric, Herzog, Denise, Lortie, Anne, Lambert, Marie, Garel, Laurent, Mitchell, Grant. A., Michaud, Jacques L.

    “…Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been…”
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    CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms by Damaj, Lena, Lupien-Meilleur, Alexis, Lortie, Anne, Riou, Émilie, Ospina, Luis H, Gagnon, Louise, Vanasse, Catherine, Rossignol, Elsa

    Published in European journal of human genetics : EJHG (01-11-2015)
    “…CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive…”
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    Serial Anti-Myelin Oligodendrocyte Glycoprotein Antibody Analyses and Outcomes in Children With Demyelinating Syndromes by Waters, Patrick, Fadda, Giulia, Woodhall, Mark, O'Mahony, Julia, Brown, Robert A, Castro, Denise A, Longoni, Giulia, Irani, Sarosh R, Sun, Bo, Yeh, E Ann, Marrie, Ruth Ann, Arnold, Douglas L, Banwell, Brenda, Bar-Or, Amit

    Published in JAMA neurology (01-01-2020)
    “…Identifying the course of demyelinating disease associated with myelin oligodendrocyte glycoprotein (MOG) autoantibodies is critical to guide appropriate…”
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    Psychogenic nonepileptic seizures by Lortie, Anne

    Published in Handbook of clinical neurology (2013)
    “…Psychogenic nonepileptic seizures (PNES) are clinical events resembling epileptic seizures but lacking abnormal cortical electrical discharges. They are…”
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    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

    Published in American journal of human genetics (02-11-2017)
    “…Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID),…”
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    The genetic landscape of infantile spasms by Michaud, Jacques L, Lachance, Mathieu, Hamdan, Fadi F, Carmant, Lionel, Lortie, Anne, Diadori, Paola, Major, Philippe, Meijer, Inge A, Lemyre, Emmanuelle, Cossette, Patrick, Mefford, Heather C, Rouleau, Guy A, Rossignol, Elsa

    Published in Human molecular genetics (15-09-2014)
    “…Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a…”
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