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1. Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

Author

Amato, Maria Eugenia, Balsells, Sol, Martorell, Loreto, Alcalá San Martín, Adrián, Ansell, Karen, Børresen, Malene Landbo, Johnson, Heather, Korff, Christian, Garcia-Tarodo, Stephanie, Lefranc, Jeremie, Denommé-Pichon, Anne-Sophie, Sarrazin, Elisabeth, Szabo, Nora Zsuzsanna, Saraiva, Jorge M., Wicher, Dorota, Goverde, Anne, Bindels-de Heus, Karen G.C.B., Barakat, Tahsin Stefan, and Ortigoza-Escobar, Juan Darío

Published
2024
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2. Real-life use of videos in pediatric epilepsy consultations

Author

Dozières-Puyravel, Blandine, Dufour, Louis, Hachon Le Camus, Caroline, Abi Warde, Marie-Thérèse, Cances, Claude, Chemaly, Nicole, Gibaud, Marc, Lefranc, Jérémie, Milh, Mathieu, Perivier, Maximillien, Toulouse, Joseph, Trauffler, Adeline, Vermelle, Marie, Maurey, Hélène, and Auvin, Stéphane

Published
2021
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3. Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Author

Tardieu, Marine, primary, Cudejko, Céline, additional, Cano, Aline, additional, Hoebeke, Célia, additional, Bernoux, Delphine, additional, Goetz, Violette, additional, Pichard, Samia, additional, Brassier, Anaïs, additional, Schiff, Manuel, additional, Feillet, François, additional, Rollier, Paul, additional, Mention, Karine, additional, Dobbelaere, Dries, additional, Fouilhoux, Alain, additional, Espil‐Taris, Caroline, additional, Eyer, Didier, additional, Huet, Frédéric, additional, Walther‐Louvier, Ulrike, additional, Barth, Magalie, additional, Chevret, Laurent, additional, Kuster, Alice, additional, Lefranc, Jérémie, additional, Neveu, Julien, additional, Pitelet, Gaele, additional, Ropars, Juliette, additional, Rivier, François, additional, Roubertie, Agathe, additional, Touati, Guy, additional, Vanhulle, Catherine, additional, Tardieu, Emilie, additional, Caillaud, Catherine, additional, Froissart, Roseline, additional, Champeaux, Murielle, additional, Labarthe, François, additional, and Chabrol, Brigitte, additional

Published
2023
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4. Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke

Author

Darteyre, Stéphane, Dégano, Céline, Delion, Matthieu, Groeschel, Samuel, Hertz-Pannier, Lucie, Husson, Béatrice, Presles, Emilie, Ravel, Magaly, Vuillerot, Carole, Chabrier, Stéphane, Peyric, Emeline, Drutel, Laure, Deron, Johanna, Kossorotoff, Manoëlle, Dinomais, Mickaël, Lazaro, Leila, Lefranc, Jérémie, Thébault, Guillaume, Dray, Gérard, Fluss, Joel, Renaud, Cyrille, and Nguyen The Tich, Sylvie

Published
2016
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5. Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

Author

Maillard, Pierre‐yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Abi Wardé, Marie‐thérèse, Spitz, Marie‐aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis-Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, de Saint Martin, Anne, Milh, Mathieu, Les Hôpitaux Universitaires de Strasbourg (HUS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique médicale d’Alsace, Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and MORNET, Dominique

Subjects
[SDV] Life Sciences [q-bio], Channelopathy, Developmental and Epileptic Encephalopathy, [SDV]Life Sciences [q-bio], Genetic generalized Epilepsy, GABA A receptor
Abstract

International audience; Objective: GABAA receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of their common molecular structure and physiological role, it seemed interesting to describe a putative phenotype associated with GABAA -receptor-related disorders as a whole and seek possible genotype/phenotype correlations.Methods: We collected clinical, electrophysiological, therapeutic, and molecular data from patients affected with GABAA receptor subunit variants (GABRA1, GABRB2, GABRB3, GABRG2) through a national French collaboration using the EPIGENE network and compared them to the one already described in the literature.Results: We gathered the reported patients in 3 epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with early developmental epileptic encephalopathy (30%), 10 with generalized epilepsy spectrum (27%), and 1 patient without seizures (3%). We did not find a specific phenotype for any gene, but we showed that the location of variants on the transmembrane (TM) segment was associated with a more severe phenotype, irrespective of the GABAA receptor subunit gene, whereas N-terminal variants seemed to be related to milder phenotypes.Significance: GABAA receptor subunit variants are associated with highly variable phenotypes despite their molecular and physiological proximity. None of the genes described here was associated with a specific phenotype. On the other hand, it appears that the location of the variant on the protein may be a marker of severity. Variant location may have important weight in the development of targeted therapeutics.

Published
2022

7. Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study

Author

Proisy, Maïa, Vivier, Pierre-Hugues, Morel, Baptiste, Bruneau, Bertrand, Sembely-Taveau, Catherine, Vacheresse, Solène, Devillers, Anne, Lecloirec, Joseph, Bodet-Milin, Caroline, Dubois, Marine, Hamonic, Stéphanie, Bajeux, Emma, Ganivet, Anne, Adamsbaum, Catherine, Treguier, Catherine, Abalea, Lydie, Croly-Labourdette, Séverine, Dam Hieu, Phong, Dobrzynski, Murielle, Fenoll, Bertrand, Forlodou, Pierre, Le Bot, Christiane, Lefranc, Jérémie, Lesoeur, Mélanie, Mériot, Philippe, Peudenier, Sylviane, Querello, Solène, Salaun, Pierre Yves, Olivier, Pierre, Martrille, Laurent, Borsa-Dorion, Anne, Galloy, Marie-Agnès, Mainard-Simard, Laurence, Raffo, Emmanuel, Cavare-Vigneron, Sylvie, Claudon, Michel, Klein, Olivier, Schmitt, Emmanuelle, Le Tacon, Serge, Morel, Olivier, Lapp, Lucie, Bodere-Kraeber, Françoise, Milin, Caroline, Fleury, Juliette, Geffroy, Loïc, Hamel, Sophie, Lefrancois, Thomas, Longis, Marie-Pierre, Mayrargue, Emmanuelle, Picherot, Georges, Quéré, Marie-Pierre, Rozé, Jean-Christophe, Vabres, Nathalie, Bouvet, Renaud, Le Gueut, Mariannick, Riffaud, Laurent, Balençon, Martine, Bétrémieux, Pierre, Chapuis, Madeleine, Chasle, Véronique, Dabadie, Alain, Damaj, Léna, Darnault, Pierre, de La Brière, François, Delahaye, Séverine, Duvauferrier, Regis, Farges, Céline, Fraisse, Bernard, Gaillot, Théophile, Gardin, Maryse, Gauvrit, Cécile, Guitteny, Marie-Aline, Marleix, Sylvette, Napuri, Silvia, Roussey, Michel, Rozel, Céline, Tirel, Olivier, Vignaud, Catherine, Violas, Philippe, Wodey, Eric, Pierre, Marion, Pladys, Patrick, Abu-Amara, Saad, Bachy, Bruno, Brasseur-Daudruy, Marie, Dacher, Jean-Nicolas, Delmon, Pascal, Lechevallier-Amara, Joël, Lerebours, Bénédicte, Leroux, Julien, Proust, Francois, Rigal, Sophie, Baulieu, Jean-Louis, Venel, Yann, Elodie, Carpentier, Chantepie, Alain, Chantreuil, Julie, Come, Mathieu, de Courtivron, Benoit, Labarthe, François, Marot, Yves, Pepin-Donat, Myriam, Sirinelli, Dominique, Travers, Nadine, Urvois-Grange, Annie, O'Byrne, Patrick, Listrat, Antoine, Barge-Galern, Marie-Luce, Le Cloirec, Joseph, Vera, Pierre, Kone-Paut, I., Deiva, Kumaran, Chaumet-Riffaud, Philippe, Grimon, Gilles, Archambaud, Frederique, Zenkhri, Ferielle, Galeotti, Caroline, Sevette-Béchard, Nancy, Prodhomme, Olivier, Leconte, Céline, Haquet, Armelle, Bourdon, Aurélie, Sainmont, Mélanie, De-Pontual, Loic, Sellier, Nicolas, Trieu, Thanh-Van, de Labriolle-Vaylet, Claire, Département de Radiologie [Rennes], Université de Rennes (UR), Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Département de médecine nucléaire [Rennes], CRLCC Eugène Marquis (CRLCC), Service de médecine nucléaire [Rouen], CRLCC Haute Normandie-Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire [Rennes], Département de Radiologie [AP-HP Hôpital Bicêtre], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), PEDIMA study research group: Lydie Abalea, Séverine Croly-Labourdette, Phong Dam Hieu, Murielle Dobrzynski, Bertrand Fenoll, Pierre Forlodou, Christiane Le Bot, Jérémie Lefranc, Mélanie Lesoeur, Philippe Meriot, Sylviane Peudenier, Solène Querello, Pierre-Yves Salaun, Pierre Olivier, Laurent Martrille, Anne Borsa-Dorion, Marie-Agnès Galloy, Laurence Mainard-Simard, Emmanuel Raffo, Sylvie Cavare-Vigneron, Michel Claudon, Olivier Klein, Emmanuelle Schmitt, Serge Le Tacon, Olivier Morel, Lucie Lapp, Françoise Bodéré-Kraeber, Caroline Milin, Juliette Fleury, Loïc Geffroy, Sophie Hamel, Antoine Hamel, Thomas Lefrançois, Marie-Pierre Longis, Emmanuelle Mayrargue, Georges Picherot, Marie-Pierre Quéré, Jean-Christophe Rozé, Nathalie Vabres, Renaud Bouvet, Mariannick Le Gueut, Laurent Riffaud, Martine Balençon, Pierre Bétrémieux, Madeleine Chapuis, Véronique Chasle, Alain Dabadie, Léna Damaj, Pierre Darnault, François De La Brière, Séverine Delahaye, Régis Duvauferrier, Céline Farges, Bernard Fraisse, Théophile Gaillot, Maryse Gardin, Cécile Gauvrit, Marie-Aline Guitteny, Sylvette Marleix, Silvia Napuri, Michel Roussey, Céline Rozel, Olivier Tirel, Catherine Tréguier, Catherine Vignaud, Philippe Violas, Eric Wodey, Marion Pierre, Patrick Pladys, Saad Abu-Amara, Bruno Bachy, Marie Brasseur-Daudruy, Jean-Nicolas Dacher, Pascal Delmon, Joël Lechevallier Amara, Bénédicte Lerebours, Julien Leroux, François Proust, Sophie Rigal, Pierre-Hugues Vivier, Jean-Louis Baulieu, Yann Venel, Elodie Carpentier, Alain Chantepie, Julie Chantreuil, Mathieu Come, Benoît De Courtivron, François Labarthe, Yves Marot, Myriam Pepin Donat, Dominique Sirinelli, Nadine Travers, Annie Urvois-Grangé, Patrick O'Byrne, Antoine Listrat, Marie-Luce Barge-Galerne, Joseph Le Cloirec, Pierre Vera, Isabelle Koné-Paut, Kumaran Deiva, Philippe Chaumet-Riffaud, Gilles Grimon, Frédérique Archambaud, Ferielle Zenkhri, Caroline Galeotti, Nancy Sevette Béchard, Olivier Prodhomme, Céline Leconte, Armelle Haquet, Aurélie Bourdon, Mélanie Sainmont, Loïc De Pontual, Nicolas Sellier, Thanh-Van Trieu, Claire De Labriolle-Vaylet., Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), and DACHER, Jean Nicolas

Subjects
Child abuse, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Skeletal survey, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, Sensitivity and Specificity, [SDV.IB.MN] Life Sciences [q-bio]/Bioengineering/Nuclear medicine, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, parasitic diseases, medicine, Humans, Whole Body Imaging, Radiology, Nuclear Medicine and imaging, Child Abuse, Prospective Studies, Child, Radionuclide Imaging, Neuroradiology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.diagnostic_test, business.industry, Infant, Interventional radiology, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Occult, Confidence interval, 3. Good health, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Physical Abuse, Bone scintigraphy, 030220 oncology & carcinogenesis, Radiology, Tomography, X-Ray Computed, business
Abstract

International audience; Objectives: To assess the contribution of whole-body magnetic resonance imaging (WBMRI) and bone scintigraphy (BS) in addition to skeletal survey (SS) in detecting traumatic bone lesions and soft-tissue injuries in suspected child abuse.Methods: In this prospective, multicentre, diagnostic accuracy study, children less than 3 years of age with suspected physical abuse were recruited. Each child underwent SS, BS and WBMRI. A blinded first review was performed in consensus by five paediatric radiologists and three nuclear medicine physicians. A second review investigated discrepancies reported between the modalities using a consensus result of all modalities as the reference standard. We calculated the sensitivity, specificity and corresponding 95% confidence interval for each imaging modality (SS, WBMRI and BS) and for the combinations [SS + WBMRI] and [SS + BS].Results: One hundred seventy children were included of which sixty-four had at least one lesion. In total, 146 lesions were included. The sensitivity and specificity of each examination were, respectively, as follows: 88.4% [95% CI, 82.0-93.1] and 99.7% [95% CI, 99.5-99.8] for the SS, 69.9% [95% CI, 61.7-77.2] and 99.5% [95% CI, 99.2-99.7] for WBMRI and 54.8% [95% CI, 46.4-63.0] and 99.7% [95% CI, 99.5-99.9] for BS. Sensitivity and specificity were, respectively, 95.9% [95% CI, 91.3-98.5] and 99.2% [95% CI, 98.9-99.4] for the combination SS + WBMRI and 95.2% [95% CI, 90.4-98.1] and 99.4% [95% CI, 99.2-99.6] for the combination SS + BS, with no statistically significant difference between them.Conclusion: SS was the most sensitive independent imaging modality; however, the additional combination of either WBMRI or BS examinations offered an increased accuracy.Key points: • SS in suspected infant abuse was the most sensitive independent imaging modality in this study, especially for detecting metaphyseal and rib lesions, and remains essential for evaluation. • The combination of either SS + BS or SS + WBMRI provides greater accuracy in diagnosing occult and equivocal bone injuries in the difficult setting of child abuse. • WBMRI is a free-radiation technique that allows additional diagnosis of soft-tissue and visceral injuries.

Published
2021

8. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Author

Ditters, Imke Anne Maartje, primary, Huidekoper, Hidde Harmen, additional, Kruijshaar, Michelle Elisabeth, additional, Rizopoulos, Dimitris, additional, Hahn, Andreas, additional, Mongini, Tiziana Enrica, additional, Labarthe, François, additional, Tardieu, Marine, additional, Chabrol, Brigitte, additional, Brassier, Anais, additional, Parini, Rossella, additional, Parenti, Giancarlo, additional, van der Beek, Nadine Anna Maria Elisabeth, additional, van der Ploeg, Ans Tjitske, additional, van den Hout, Johanna Maria Pieternel, additional, Mengel, Eugen, additional, Hennermann, Julia, additional, Smitka, Martin, additional, Muschol, Nicole, additional, Marquardt, Thorsten, additional, Marquardt, Martina, additional, Thiels, Charlotte, additional, Spada, Marco, additional, Pagliardini, Veronica, additional, Menni, Francesca, additional, della Casa, Roberto, additional, Deodato, Federica, additional, Gasperini, Serena, additional, Burlina, Alberto, additional, Donati, Alice, additional, Pichard, Samia, additional, Feillet, François, additional, Huet, Fréderic, additional, Mention, Karine, additional, Eyer, Didier, additional, Kuster, Alice, additional, Espil Taris, Caroline, additional, Lefranc, Jérémie, additional, Barth, Magalie, additional, Bruel, Henri, additional, Chevret, Laurent, additional, Pitelet, Gaele, additional, Pitelet, Catherine, additional, Rivier, François, additional, and Dobbelaere, Dries, additional

Published
2022
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10. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Author

Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, and Philippe, Christophe

Published
2015
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11. West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Author

Gibaud, Marc, primary, Barth, Magalie, additional, Lefranc, Jérémie, additional, Mention, Karine, additional, Villeneuve, Nathalie, additional, Schiff, Manuel, additional, Maurey, Hélène, additional, Barthez, Marie-Anne, additional, Caubel, Isabelle, additional, Chouchane, Mondher, additional, Doummar, Diane, additional, Kossorotoff, Manoëlle, additional, Lamblin, Marie-Dominique, additional, Roubertie, Agathe, additional, Nabbout, Rima, additional, and Van Bogaert, Patrick, additional

Published
2021
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12. Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke

Author

Thébault, Guillaume, Martin, Sophie, Brouillet, Denis, Brunel, Lionel, Dinomais, Mickaël, Presles, Emilie, Fluss, Joel, Chabrier, Stéphane, Darteyre, Stéphane, Dégano, Céline, Delion, Matthieu, Deron, Johanna, Dray, Gérard, Drutel, Laure, Groeschel, Samuel, Hertz‐Pannier, Lucie, Husson, Béatrice, Kossorotoff, Manoelle, Lazaro, Leila, Lefranc, Jérémie, Nguyen The Tich, Sylvie, Peyric, Emeline, Ravel, Magaly, Renaud, Cyrille, Vuillerot, Carole, Dynamique des capacités humaines et des conduites de santé (EPSYLON), Université de Montpellier (UM)-Université Paul-Valéry - Montpellier 3 (UPVM)-Université Montpellier 1 (UM1), Institut national de recherches archéologiques préventives (Inrap), Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), Groupe de recherche sur la thrombose (GRT (EA 3065)), Université Jean Monnet [Saint-Étienne] (UJM), service de médecine physique et réadaptation pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Bellevue-CHU de Saint-Etienne, Département de neurochirurgie [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Génie Informatique et Ingénierie de Production (LGI2P), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Clinique, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-hôpital Sud, CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de neurologie pédiatrique, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Pédiatrie hospices civils de Lyon, hôpital Femme-Mère-Enfant, Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UM3)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Sud, Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Montpellier (UM), and CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

Subjects
Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Population, Stroke/complications/diagnosis/physiopathology/psychology, Functional Laterality, Cerebral palsy, Brain Ischemia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Physical medicine and rehabilitation, Cognition, Sex Factors, Developmental Neuroscience, 030225 pediatrics, Medicine, Humans, Cognitive skill, education, Child, Motor skill, Neonatal stroke, ComputingMilieux_MISCELLANEOUS, Wechsler Intelligence Scale for Children, education.field_of_study, ddc:618, business.industry, Cerebral Palsy, Hand/physiopathology, medicine.disease, Hand, Stroke, Socioeconomic Factors, Motor Skills, Pediatrics, Perinatology and Child Health, Linear Models, Female, Neurology (clinical), Cerebral Palsy/complications/diagnosis/physiopathology/psychology, business, Brain Ischemia/complications/diagnosis/physiopathology/psychology, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies
Abstract

Aim To disentangle the respective impacts of manual dexterity and cerebral palsy (CP) in cognitive functioning after neonatal arterial ischaemic stroke. Method The population included 60 children (21 females, 39 males) with neonatal arterial ischaemic stroke but not epilepsy. The presence of CP was assessed clinically at the age of 7 years and 2 months (range 6y 11mo-7y 8mo) using the definition of the Surveillance of CP in Europe network. Standardized tests (Nine-Hole Peg Test and Box and Blocks Test) were used to quantify manual (finger and hand respectively) dexterity. General cognitive functioning was evaluated with the Wechsler Intelligence Scale for Children, Fourth Edition. Simple and multiple linear regression models were performed while controlling for socio-economic status, lesion side, and sex. Results Fifteen children were diagnosed with CP. In simple regression models, both manual dexterity and CP were associated with cognitive functioning (β=0.41 [p=0.002] and β=0.31 [p=0.019] respectively). However, in multiple regression models, manual dexterity was the only associated variable of cognitive functioning, whether or not a child had CP (β=0.35; p=0.007). This result was reproduced in models with other covariables (β=0.31; p=0.017). Interpretation As observed in typically developing children, manual dexterity is related to cognitive functioning in children having suffered a focal brain insult during the neonatal period. What this paper adds Manual dexterity predicts cognitive functioning after neonatal arterial ischaemic stroke. Correlations between manual dexterity and cognitive functioning occur irrespective of sex, lesion side, presence of cerebral palsy, and socio-economic status. Residual motor ability may support cognitive functioning.

Published
2018

13. Association of transcallosal motor fibres with function of both hands after unilateral neonatal arterial ischemic stroke

Author

Groeschel, Samuel, Hertz‐Pannier, Lucie, Delion, Matthieu, Loustau, Sébastien, Husson, Béatrice, Kossorotoff, Manoelle, Renaud, Cyrille, Nguyen The Tich, Sylvie, Chabrier, Stéphane, Dinomais, Mickaël, Darteyre, Stéphane, Dégano, Céline, Deron, Johanna, Dray, Gérard, Drutel, Laure, Lazaro, Leila, Lefranc, Jérémie, Peyric, Emeline, Presles, Emilie, Ravel, Magaly, Thébault, Guillaume, Vuillerot, Carole, Department of Child Neurology, University Hospital Tübingen, Tübingen, Germany, Unité de recherche en NeuroImagerie Applicative Clinique et Translationnelle (UNIACT), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Département de neurochirurgie [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire d'Analyse, Topologie, Probabilités (LATP), Université Paul Cézanne - Aix-Marseille 3-Université de Provence - Aix-Marseille 1-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de recherche sur la thrombose (GRT (EA 3065)), Université Jean Monnet [Saint-Étienne] (UJM), Service de neurologie pédiatrique, service de médecine physique et réadaptation pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Bellevue-CHU de Saint-Etienne, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), PRES Université Nantes Angers Le Mans (UNAM), Department of Pediatrics, French Polynesia Hospital, Laboratoire de Génie Informatique et Ingénierie de Production (LGI2P), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Service de pédiatrie, Le CHCB, Centre Hospitalier de la Côte Basque, CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Dynamique des capacités humaines et des conduites de santé (EPSYLON), Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Montpellier (UM), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Laboratoire Angevin de Recherche en Mathématiques (LAREMA), Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), CHU Lille, AVCnn study group: Stéphane Darteyre, Céline Dégano, Johanna Deron, Gérard Dray, Laure Drutel, Manoëlle Kossorotoff, Leila Lazaro, Jérémie Lefranc, Emeline Peyric, Emilie Presles, Magaly Ravel, Guillaume Thébault, Carole Vuillerot, Gerard, Marie-Françoise, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UM3)-Université de Montpellier (UM), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), and ANR-11-LABX-0020,LEBESGUE,Centre de Mathématiques Henri Lebesgue : fondements, interactions, applications et Formation(2011)

Subjects
Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Pyramidal Tracts, Lesion volume, Motor Activity, Corpus callosum, Functional Laterality, Brain Ischemia, Corpus Callosum, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Developmental Neuroscience, 030225 pediatrics, medicine.artery, medicine, Humans, Association (psychology), Child, medicine.diagnostic_test, Motor Cortex, Magnetic resonance imaging, Anatomy, Organ Size, Hand, Arterial Ischemic Stroke, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], Stroke, Diffusion Tensor Imaging, Pediatrics, Perinatology and Child Health, Corticospinal tract, Middle cerebral artery, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, Diffusion MRI
Abstract

International audience; AIM: The objective of this study was to investigate the involvement of the motor fibres of the corpus callosum after unilateral neonatal arterial ischemic stroke (NAIS) of the middle cerebral artery territory and the relationship to both ipsilesional and contralesional hand function.METHOD: Using high-resolution structural magnetic resonance imaging (MRI), functional MRI, and magnetic resonance diffusion-tractography, we compared the midsagittal area of the motor part of the corpus callosum (defined by the fibres connecting the precentral gyri) between 33 7-year-old children after unilateral NAIS and 31 typically developing 7-year-old children. Hand motor performance was assessed by the box and blocks test.RESULTS: Children after NAIS showed on average significantly smaller motor corpus callosum area compared to typically developing children (p|t|)=0.034) and ipsilesional hand motor performance (Pr(>|t|)=0.006) after controlling for lesion volume and sex. In a post-hoc analysis the additional contribution of corticospinal tract damage was evaluated.INTERPRETATION: Compared to typically developing children, children after NAIS exhibited a smaller motor part of their corpus callosum associated with reduced contralesional but also ipsilesional manual dexterity. These results indicate that the affection of transcallosal motor fibres in unilateral NAIS might be of functional relevance and an important part of the involved structural network that should be elucidated in further studies.TRIAL REGISTRATION: ClinicalTrials.gov NCT02511249.© 2017 Mac Keith Press.

Published
2017

14. Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke

Author

Chabrier, Stéphane, primary, Peyric, Emeline, additional, Drutel, Laure, additional, Deron, Johanna, additional, Kossorotoff, Manoëlle, additional, Dinomais, Mickaël, additional, Lazaro, Leila, additional, Lefranc, Jérémie, additional, Thébault, Guillaume, additional, Dray, Gérard, additional, Fluss, Joel, additional, Renaud, Cyrille, additional, Nguyen The Tich, Sylvie, additional, Darteyre, Stéphane, additional, Dégano, Céline, additional, Delion, Matthieu, additional, Groeschel, Samuel, additional, Hertz-Pannier, Lucie, additional, Husson, Béatrice, additional, Presles, Emilie, additional, Ravel, Magaly, additional, and Vuillerot, Carole, additional

Published
2016
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15. Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study

Author

Lagarde, Stanislas, primary, Villeneuve, Nathalie, additional, Trébuchon, Agnès, additional, Kaphan, Elsa, additional, Lepine, Anne, additional, McGonigal, Aileen, additional, Roubertie, Agathe, additional, Barthez, Marie‐Anne J., additional, Trommsdorff, Valérie, additional, Lefranc, Jérémie, additional, Wehbi, Samer, additional, des Portes, Vincent, additional, Laguitton, Virginie, additional, Quartier, Pierre, additional, Scavarda, Didier, additional, Giusiano, Bernard, additional, Milh, Mathieu, additional, Bulteau, Christine, additional, and Bartolomei, Fabrice, additional

Published
2016
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16. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Author

Mignot, Cyril, primary, Lambert, Laetitia, additional, Pasquier, Laurent, additional, Bienvenu, Thierry, additional, Delahaye-Duriez, Andrée, additional, Keren, Boris, additional, Lefranc, Jérémie, additional, Saunier, Aline, additional, Allou, Lila, additional, Roth, Virginie, additional, Valduga, Mylène, additional, Moustaïne, Aissa, additional, Auvin, Stéphane, additional, Barrey, Catherine, additional, Chantot-Bastaraud, Sandra, additional, Lebrun, Nicolas, additional, Moutard, Marie-Laure, additional, Nougues, Marie-Christine, additional, Vermersch, Anne-Isabelle, additional, Héron, Bénédicte, additional, Pipiras, Eva, additional, Héron, Delphine, additional, Olivier-Faivre, Laurence, additional, Guéant, Jean-Louis, additional, Jonveaux, Philippe, additional, and Philippe, Christophe, additional

Published
2014
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18. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Author

Ditters, Imke Anne Maartje, Huidekoper, Hidde Harmen, Kruijshaar, Michelle Elisabeth, Rizopoulos, Dimitris, Hahn, Andreas, Mongini, Tiziana Enrica, Labarthe, François, Tardieu, Marine, Chabrol, Brigitte, Brassier, Anais, Parini, Rossella, Parenti, Giancarlo, van der Beek, Nadine Anna Maria Elisabeth, van der Ploeg, Ans Tjitske, van den Hout, Johanna Maria Pieternel, Mengel, Eugen, Hennermann, Julia, Smitka, Martin, Muschol, Nicole, Marquardt, Thorsten, Marquardt, Martina, Thiels, Charlotte, Spada, Marco, Pagliardini, Veronica, Menni, Francesca, della Casa, Roberto, Deodato, Federica, Gasperini, Serena, Burlina, Alberto, Donati, Alice, Pichard, Samia, Feillet, François, Huet, Fréderic, Mention, Karine, Eyer, Didier, Kuster, Alice, Espil Taris, Caroline, Lefranc, Jérémie, Barth, Magalie, Bruel, Henri, Chevret, Laurent, Pitelet, Gaele, Pitelet, Catherine, Rivier, François, and Dobbelaere, Dries

Abstract

Enzyme replacement therapy (ERT) with alglucosidase alfa has been found to improve outcomes in patients with classic infantile Pompe disease, who without treatment typically die before the age of 1 year. Variable responses to the standard recommended dosage have led to alternative dosing strategies. We aimed to assess the effect of real-world ERT regimens on survival and walking ability in these patients.

Published
2021
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19. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Author

Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, and Kristensen AS

Subjects
Humans, Male, Female, Child, Child, Preschool, Adolescent, Infant, Adult, Young Adult, Neurodevelopmental Disorders genetics, Receptors, AMPA genetics, Phenotype, Loss of Function Mutation genetics, Gain of Function Mutation genetics
Abstract

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally. Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral. We collected detailed clinical data from 25 patients (from 23 families) harbouring 17 of these variants. All patients had global developmental impairment, mostly moderate (9/25) or severe (12/25). Twelve patients had seizures, including focal motor (6/12), unknown onset motor (4/12), focal impaired awareness (1/12), (atypical) absence (2/12), myoclonic (5/12) and generalized tonic-clonic (1/12) or atonic (1/12) seizures. The epilepsy syndrome was classified as developmental and epileptic encephalopathy in eight patients, developmental encephalopathy without seizures in 13 patients, and intellectual disability with epilepsy in four patients. Limb muscular hypotonia was reported in 13/25, and hypertonia in 10/25. Movement disorders were reported in 14/25, with hyperekplexia or non-epileptic erratic myoclonus being the most prevalent feature (8/25). Correlating receptor functional phenotype with clinical features revealed clinical features for GRIA3-associated NDDs and distinct NDD phenotypes for loss-of-function and gain-of-function variants. Gain-of-function variants were associated with more severe outcomes: patients were younger at the time of seizure onset (median age: 1 month), hypertonic and more often had movement disorders, including hyperekplexia. Patients with loss-of-function variants were older at the time of seizure onset (median age: 16 months), hypotonic and had sleeping disturbances. Loss-of-function and gain-of-function variants were disease-causing in both sexes but affected males often carried de novo or hemizygous loss-of-function variants inherited from healthy mothers, whereas affected females had mostly de novo heterozygous gain-of-function variants., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Published
2024
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20. Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Author

Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M, de Bellescize J, Villard L, De Saint Martin A, and Milh M

Subjects
Cohort Studies, Genetic Association Studies, Humans, Mutation, Phenotype, Receptors, GABA-A genetics, Receptors, GABA-A metabolism, gamma-Aminobutyric Acid metabolism, Epilepsy genetics, Epilepsy, Generalized
Abstract

Objective: γ-Aminobutyric acid (GABA) A -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common molecular structure and physiological role of these phenotypes, it seemed interesting to describe a putative phenotype associated with GABA A -receptor-related disorders as a whole and seek possible genotype-phenotype correlations., Methods: We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABA A -receptor subunit variants (GABRA1, GABRB2, GABRB3, and GABRG2) through a national French collaboration using the EPIGENE network and compared these data to the one already described in the literature., Results: We gathered the reported patients in three epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with early developmental epileptic encephalopathy (30%), 10 with generalized epilepsy spectrum (27%), and 1 patient without seizures (3%). We did not find a specific phenotype for any gene, but we showed that the location of variants on the transmembrane (TM) segment was associated with a more severe phenotype, irrespective of the GABA A -receptor subunit gene, whereas N-terminal variants seemed to be related to milder phenotypes., Significance: GABA A -receptor subunit variants are associated with highly variable phenotypes despite their molecular and physiological proximity. None of the genes described here was associated with a specific phenotype. On the other hand, it appears that the location of the variant on the protein may be a marker of severity. Variant location may have important weight in the development of targeted therapeutics., (© 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Published
2022
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