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506 results on '"Carmant, Lionel"'

103. Development and characterization of a novel mouse model of Rasmussen's encephalitis

Author

Fontaine, François, primary, Kebir, Hania, additional, Sanon, Nathalie, additional, Bosoi, Ciprian, additional, Bourbonnière, Lyne, additional, Terouz, Simone, additional, Ciuta, Cecile, additional, Holmes, Gregory L., additional, Goodkin, Howard, additional, Myrtinger, John, additional, Connolly, Mary, additional, Carmant, Lionel, additional, Prat, Alexandre, additional, and Haddad, Elie, additional

Published
2014
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104. Child- and parent-reported quality of life trajectories in children with epilepsy: A prospective cohort study.

Author

Ferro, Mark A., Avery, Lisa, Fayed, Nora, Streiner, David L., Cunningham, Charles E., Boyle, Michael H., Lach, Lucyna, Glidden, Gina, Rosenbaum, Peter L., Ronen, Gabriel M., Connolly, Mary, Bello‐Espinosa, Luis, Rafay, Mubeen F., Appendino, Juan Pablo, Shevell, Michael, and Carmant, Lionel

Subjects
PARENTS of chronically ill children, CHILDREN with epilepsy, QUALITY of life, CHILDHOOD epilepsy, MENTAL depression, MENTAL health, CHILD psychology, SOCIAL support
Abstract

Objective To describe the developmental trajectories of quality of life (QoL) in a large cohort of children with epilepsy, and to assess the relative contribution of clinical, psychosocial, and sociodemographic variables on QoL trajectories. Methods Five assessments during a 28-month prospective cohort study were used to model trajectories of QoL. Participants were recruited with their parents from six Canadian tertiary centers. A convenience sample of 506 children aged 8-14 years with epilepsy and without intellectual disability or autism spectrum disorder were enrolled. A total of 894 children were eligible and 330 refused participation. Participating children were, on average, 11.4 years of age, and 49% were female. Nearly one third (32%) had partial seizures. At baseline, 479 and 503 child- and parent-reported questionnaires were completed. In total, 354 children (74%) and 366 parents (73%) completed the 28-month follow-up. QoL was measured using the child- and parent-reported version of the Childhood Epilepsy QoL scale (CHEQOL-25). Results Child-reported QoL was fitted best by a six-class model and parent-reported QoL by a five-class model. In both models, trajectories remained either stable or improved over 28 months. Of these children, 62% rated their QoL as high or moderately high, defined as at least one standard deviation above the average CHEQOL-25 score. Greater family, classmate, and peer social support, fewer symptoms of child and parent depression, and higher receptive vocabulary were identified as the most robust predictors of better QoL (all p < 0.001). Significance Most children with epilepsy and their parents reported relatively good QoL in this first joint self- and proxy-reported trajectory study. Findings confirm the heterogeneous QoL outcomes for children with epilepsy and the primary importance of psychosocial factors rather than seizure and AED-specific factors in influencing QoL. These predictors that are potentially amenable to change should now be the focus of specific intervention studies. [ABSTRACT FROM AUTHOR]

Published
2017
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105. Significant motor improvement in an infant with congenital heart disease and a rolandic stroke: The impact of early intervention.

Author

Gallagher, Anne, Dagenais, Lynn, Doussau, Amélie, Décarie, Jean-Claude, Materassi, Manuela, Gagnon, Karine, Prud'homme, Joelle, Vobecky, Suzanne, Poirier, Nancy, and Carmant, Lionel

Subjects
MOVEMENT disorder treatments, EDUCATION of parents, CONGENITAL heart disease, MOTOR ability, STROKE treatment, DEVELOPMENTAL disabilities, EXERCISE, CARDIAC surgery, MAGNETIC resonance imaging, NEUROPLASTICITY, SURGICAL complications, EARLY intervention (Education), THERAPEUTICS
Abstract

Objective: To report the impact of early motor intervention in an infant with congenital heart disease (CHD) and a stroke.Methods and Results: A 35-week newborn with a complex CHD and a normal MRI presented with early motor developmental delay at 2 months. She began an intervention program, which included biweekly motor developmental therapy with a physiotherapist, parental education, and daily home exercises. At 4 months, she underwent cardiac surgery. Following surgery, she was diagnosed with a stroke involving the right sylvian artery territory. She continued her intensive intervention program. The 12-month assessment revealed an evident gain of motor function. Despite MRI evidence of a chronic infarct involving the primary motor cortex, the child had normal motor functions.Conclusion: This case report supports the positive impact of early intervention in infants with CHD and its potential effect on enhancing neuroplasticity, even in children with cerebro-vascular accidents involving areas of motor function. [ABSTRACT FROM AUTHOR]

Published
2017
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106. Focal Seizures in Patients With SCN1A Mutations.

Author

McDonald, Christopher L., Saneto, Russell P., Carmant, Lionel, and Sotero de Menezes, Márcio A.

Subjects
GENETIC mutation, SEIZURES (Medicine), EPILEPSY, BRAIN diseases, DISEASE management
Abstract

The SCN1A gene has been implicated in the etiology of various forms of epilepsy. New research has linked this gene to specific types of epilepsy, all of which present in infancy or early childhood. This study examines the time course and pathology of pediatric patients who have a mutation in the SCN1A gene in order to open a discussion regarding the key trends of this form of epilepsy as well as important clinical considerations in management for patients who present with symptoms relating to the SCN1A mutations. We retrospectively examined 20 patients who presented to the clinic with focal seizures, as well as were positive for an SCN1A genetic mutation. Despite the small sample size, we were able to find important trends in the time course of the disorder as well as important areas of clinical practice that must be taken into consideration for these patients. [ABSTRACT FROM AUTHOR]

Published
2017
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108. Current beliefs and attitudes regarding epilepsy in Mali

Author

Maiga, Youssoufa, primary, Albakaye, Mohamed, additional, Diallo, Lanssana Laho, additional, Traoré, Broulaye, additional, Cissoko, Yacouba, additional, Hassane, Seybou, additional, Diakite, Sara, additional, Clare McCaughey, K., additional, Kissani, Najib, additional, Diaconu, Valeria, additional, Buch, Danielle, additional, Kayentoa, Kassim, additional, and Carmant, Lionel, additional

Published
2014
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110. Outcomes Trajectories in Children With Epilepsy: Hypotheses and Methodology of a Canadian Longitudinal Observational Study

Author

Ronen, Gabriel M., primary, Streiner, David L., additional, Boyle, Michael H., additional, Cunningham, Charles E., additional, Lach, Lucyna, additional, Verhey, Leonard H., additional, Fayed, Nora, additional, Chen, Karen, additional, Rosenbaum, Peter L., additional, Connolly, Mary, additional, Bello-Espinosa, Luis E., additional, Rafay, Mubeen F., additional, Appendino, Juan Pablo, additional, Shevell, Michael, additional, and Carmant, Lionel, additional

Published
2014
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111. Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Author

Berryer, Martin H, Hamdan, Fadi F, Klitten, Laura L, Møller, Rikke S, Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M, Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A, Tommerup, Niels, Immken, Ladonna, Beauchamp, Miriam H, Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A, Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L, Di Cristo, Graziella, Berryer, Martin H, Hamdan, Fadi F, Klitten, Laura L, Møller, Rikke S, Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M, Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A, Tommerup, Niels, Immken, Ladonna, Beauchamp, Miriam H, Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A, Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L, and Di Cristo, Graziella

Abstract

De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity-dependent phosphorylated extracellular signal-regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption.

Published
2013

112. Évaluation longitudinale des changements morphologiques et métaboliques survenant chez un modèle raton de convulsions fébriles atypiques

Author

Carmant, Lionel, Lecomte, Roger, Clerk-Lamalice, Olivier, Lepage, Martin, Carmant, Lionel, Lecomte, Roger, Clerk-Lamalice, Olivier, and Lepage, Martin

Abstract

Les convulsions fébriles (CF) surviennent chez 2 à 5 % des jeunes enfants. La grande majorité de ces épisodes sont complètement bénins et aucune conséquence ne découle de ces convulsions. Une récente étude a par contre démontré qu'au sein d'une population pédiatrique atteinte d'épilepsie du lobe temporal (ELT), plusieurs enfants ont développé des CF avant l'apparition de ce trouble neurologique. De plus, cette étude a démontré une prévalence élevée de double pathologie chez ces enfants (sclérose de l'hippocampe et malformation corticale), suggérant un lien de causalité entre les CF, la malformation corticale et le développement de l'ELT. En se basant sur ces observations cliniques, la présente étude a pour but d'étudier les changements morphologiques et métaboliques cérébraux survenant suite aux convulsions hyperthermiques chez un modèle raton atteint de dysplasie corticale focale. Pour ce faire, une analyse du changement d'intensité de signal IRM en pondération-T[indice inférieur 2] et de multiples images TEP obtenues à l'aide de différents radiotraceurs([[indice supérieur 18]F]-FDG, [[indice supérieur 13]N]-NH[indice inférieur 3], [[indice supérieur 11]C]-acétoacétate) a été effectuée. De plus, un suivi longitudinal du développement volumétrique de l'hippocampe et des ventricules latéraux a été effectué. Les résultats de cette étude présentent une atteinte plus prononcée de l'hippocampe suite aux convulsions hyperthermiques chez le cerveau avec dysplasie corticale. En effet, 5 h après l'induction des convulsions hyperthermiques, un hyposignal IRM T[indice inférieur 2] est présent dans l'hippocampe de ce groupe comparativement au groupe contrôle atteint de dysplasie corticale seule. Les images TEP acquises pendant des convulsions hyperthermiques prolongées révèlent une inhomogénéité importante de captation du [[indice supérieur 18]F]-FDG au sein des structures cérébrales. L'hippocampe est d'ailleurs la structure avec la plus faible captation de [[indice supérieur 1

Published
2010

113. Les facteurs de risque de la non-réponse à l'Acide Valproïque chez les enfants atteints d'épilepsie généralisée avec absences

Author

Carmant, Lionel, Krajinovic, Maja, Ollivier, May Lissa, Dubois, Marie-France, Carmant, Lionel, Krajinovic, Maja, Ollivier, May Lissa, and Dubois, Marie-France

Abstract

L'épilepsie idiopathique généralisée avec absences (EIGA) est une des formes les plus fréquentes d'épilepsie chez l'enfant. Elle survient chez les enfants exempts de maladie avec un pic d'incidence autour de 5 ans. Des statistiques mondiales indiquent que les crises d'absences sont contrôlées par l'Acide Valproïque (AV) chez 75 % des enfants. Pour les autres, la médication est inefficace ou elle entraîne des effets secondaires qui limitent son utilisation. Certaines études ont identifié des facteurs cliniques associés à l'épilepsie réfractaire mais elles incluent tous les types d'épilepsie et tous les traitements. De plus, un nombre croissant de recherches démontrent que la réponse aux médicaments pourrait être grandement influencée par des facteurs génétiques, plus particulièrement par les polymorphismes du cytochrome P450 (CYP). Il faudrait donc ajuster le traitement en fonction du profil génétique de chaque patient. Dans cette étude, nous avons voulu identifier des facteurs cliniques, sociodémographiques et génétiques qui pourraient influencer la réponse à l'AV chez des enfants diagnostiqués d'EIGA. Méthodes : Nous avons tout d'abord identifié des patients diagnostiqués d'EIGA qui étaient suivis au CHU Sainte-Justine de Montréal et traités à l'AV pendant au moins deux mois. Par la suite, une même personne (MLO) a réalisé la revue de tous les dossiers médicaux afm [i.e. afin] d'extraire l'information concernant la réponse à l'AV et les données cliniques et sociodémographiques qui pourraient influencer celle-ci. Une collecte d'échantillons d'ADN des patients toujours suivi à la clinique a ensuite été effectuée afm d'évaluer l'impact de polymorphismes dans deux enzymes du CYP (CYP2C9 et CYP2C19) sur la réponse à l'AV chez ces patients. L'évaluation des polymorphismes s'est faite par hybridation avec oligonucléotides spécifiques pour des allèles (ASO). Des analyses bivariées ont été effectuées afin d'identifier toutes les variables qui différaient entre les répondant

Published
2009

118. Correlates of health-related quality of life in children with drug resistant epilepsy.

Author

Conway, Lauryn, Smith, Mary Lou, Ferro, Mark A., Speechley, Kathy N., Connoly, Mary B., Snead, O. Carter, Widjaja, Elysa, Go, Cristina, Ramachandrannair, Rajesh, Carmant, Lionel, Buchhalter, Jeffrey, Brna, Paula, Booth, Fran, Almubarak, Salah, and Levin, Simon

Subjects
QUALITY of life, CHILDHOOD epilepsy, DRUG resistance, PEDIATRICS, REGRESSION analysis, CAREGIVERS, CAREGIVER education, EMPLOYMENT, DIAGNOSIS
Abstract

Objective Health-related quality of life ( HRQL) is compromised in children with epilepsy. The current study aimed to identify correlates of HRQL in children with drug resistant epilepsy. Methods Data came from 115 children enrolled in the Impact of Pediatric Epilepsy Surgery on Health-Related Quality of Life Study ( PEPSQOL), a multicenter prospective cohort study. Individual, clinical, and family factors were evaluated. HRQL was measured using the Quality of Life in Childhood Epilepsy Questionnaire ( QOLCE), a parent-rated epilepsy-specific instrument, with composite scores ranging from 0 to 100. A series of univariable linear regression analyses were conducted to identify significant associations with HRQL, followed by a multivariable regression analysis. Results Children had a mean age of 11.85 ± 3.81 years and 65 (56.5%) were male. The mean composite QOLCE score was 60.18 ± 16.69. Child age, sex, age at seizure onset, duration of epilepsy, caregiver age, caregiver education, and income were not significantly associated with HRQL. Univariable regression analyses revealed that a higher number of anti-seizure medications (p = 0.020), lower IQ (p = 0.002), greater seizure frequency (p = 0.048), caregiver unemployment (p = 0.010), higher caregiver depressive and anxiety symptoms (p < 0.001 for both), poorer family adaptation, fewer family resources, and a greater number of family demands (p < 0.001 for all) were associated with lower HRQL. Multivariable regression analysis showed that lower child IQ (β = 0.20, p = 0.004), fewer family resources (β = 0.43, p = 0.012), and caregiver unemployment (β = 6.53, p = 0.018) were associated with diminished HRQL in children. Significance The results emphasize the importance of child cognition and family variables in the HRQL of children with drug-resistant epilepsy. The findings speak to the importance of offering comprehensive care to children and their families to address the nonmedical features that impact on HRQL. [ABSTRACT FROM AUTHOR]

Published
2016
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119. Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Author

Berryer, Martin H., primary, Hamdan, Fadi F., additional, Klitten, Laura L., additional, Møller, Rikke S., additional, Carmant, Lionel, additional, Schwartzentruber, Jeremy, additional, Patry, Lysanne, additional, Dobrzeniecka, Sylvia, additional, Rochefort, Daniel, additional, Neugnot-Cerioli, Mathilde, additional, Lacaille, Jean-Claude, additional, Niu, Zhiyv, additional, Eng, Christine M., additional, Yang, Yaping, additional, Palardy, Sylvain, additional, Belhumeur, Céline, additional, Rouleau, Guy A., additional, Tommerup, Niels, additional, Immken, LaDonna, additional, Beauchamp, Miriam H., additional, Patel, Gayle Simpson, additional, Majewski, Jacek, additional, Tarnopolsky, Mark A., additional, Scheffzek, Klaus, additional, Hjalgrim, Helle, additional, Michaud, Jacques L., additional, and Di Cristo, Graziella, additional

Published
2012
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128. Long-term consequences of a prolonged febrile seizure in a dual pathology model

Author

Gibbs, Steve, primary, Chattopadhyaya, Bidisha, additional, Desgent, Sébastien, additional, Awad, Patricia N., additional, Clerk-Lamalice, Olivier, additional, Levesque, Maxime, additional, Vianna, Rose-Mari, additional, Rébillard, Rose-Marie, additional, Delsemme, Andrée-Anne, additional, Hébert, David, additional, Tremblay, Luc, additional, Lepage, Martin, additional, Descarries, Laurent, additional, Di Cristo, Graziella, additional, and Carmant, Lionel, additional

Published
2011
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130. De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Author

Hamdan, Fadi F., primary, Daoud, Hussein, additional, Piton, Amélie, additional, Gauthier, Julie, additional, Dobrzeniecka, Sylvia, additional, Krebs, Marie-Odile, additional, Joober, Ridha, additional, Lacaille, Jean-Claude, additional, Nadeau, Amélie, additional, Milunsky, Jeff M., additional, Wang, Zhenyuan, additional, Carmant, Lionel, additional, Mottron, Laurent, additional, Beauchamp, Miriam H., additional, Rouleau, Guy A., additional, and Michaud, Jacques L., additional

Published
2011
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135. Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss

Author

Seyrantepe, Volkan, primary, Lema, Pablo, additional, Caqueret, Aurore, additional, Dridi, Larbi, additional, Bel Hadj, Samar, additional, Carpentier, Stephane, additional, Boucher, Francine, additional, Levade, Thierry, additional, Carmant, Lionel, additional, Gravel, Roy A., additional, Hamel, Edith, additional, Vachon, Pascal, additional, Di Cristo, Graziella, additional, Michaud, Jacques L., additional, Morales, Carlos R., additional, and Pshezhetsky, Alexey V., additional

Published
2010
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138. Microsurgery of epileptic foci in the insular region

Author

Malak, Ramez, primary, Bouthillier, Alain, additional, Carmant, Lionel, additional, Cossette, Patrick, additional, Giard, Normand, additional, Saint-Hilaire, Jean-Marc, additional, Nguyen, Dong Bach, additional, and Nguyen, Dang Khoa, additional

Published
2009
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141. Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

Author

Hamdan, Fadi F., primary, Gauthier, Julie, additional, Spiegelman, Dan, additional, Noreau, Anne, additional, Yang, Yan, additional, Pellerin, Stéphanie, additional, Dobrzeniecka, Sylvia, additional, Côté, Mélanie, additional, Perreau-Linck, Elizabeth, additional, Carmant, Lionel, additional, D'Anjou, Guy, additional, Fombonne, Éric, additional, Addington, Anjene M., additional, Rapoport, Judith L., additional, Delisi, Lynn E., additional, Krebs, Marie-Odile, additional, Mouaffak, Faycal, additional, Joober, Ridha, additional, Mottron, Laurent, additional, Drapeau, Pierre, additional, Marineau, Claude, additional, Lafrenière, Ronald G., additional, Lacaille, Jean Claude, additional, Rouleau, Guy A., additional, and Michaud, Jacques L., additional

Published
2009
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145. 7. Vigabatrin as first line therapy for Infantile Spasms (IS): results of the first six months of the Canadian Paediatric Epilepsy Network (CPEN) neuroprotective is study

Author

Salas-Prato, Milagros, primary, Sauerwein, Catherine H., additional, Amre, Devendra, additional, Weiss, Shelly, additional, Donner, Elizabeth, additional, Farrell, Kevin, additional, Whiting, Sharon, additional, Dooley, Joseph, additional, Wirrell, Elaine, additional, Ronen, Gabriel, additional, Lassonde, Maryse, additional, Giroux, Patricia, additional, Karvelas, George, additional, and Carmant, Lionel, additional

Published
2008
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147. Near‐infrared spectroscopy as an alternative to the Wada test for language mapping in children, adults and special populations

Author

Gallagher, Anne, primary, Thériault, Martin, additional, Maclin, Ed, additional, Low, Kathy, additional, Gratton, Gabriele, additional, Fabiani, Monica, additional, Gagnon, Louise, additional, Valois, Katja, additional, Rouleau, Isabelle, additional, Sauerwein, Hannelore C., additional, Carmant, Lionel, additional, Nguyen, Dang K., additional, Lortie, Anne, additional, Lepore, Franco, additional, Béland, Renée, additional, and Lassonde, Maryse, additional

Published
2007
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