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2. Use of Mexiletine in Children: A Minireview

Author

Sarret, Catherine, additional, Barrière, Sarah, additional, Remerand, Ganaelle, additional, Massoullie, Grégoire, additional, Chalard, Aurélie, additional, Dauphin, Claire, additional, Pontier, Bénédicte, additional, and Laffargue, Fanny, additional

Published
2024
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4. GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

Author

Ragnarsson, Lotten, primary, Zhang, Zihan, additional, Das, Sooraj S., additional, Tran, Poanna, additional, Andersson, Åsa, additional, des Portes, Vincent, additional, Desmettre Altuzarra, Cecilia, additional, Remerand, Ganaelle, additional, Labalme, Audrey, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Lesca, Gaetan, additional, Anggono, Victor, additional, Vetter, Irina, additional, and Keramidas, Angelo, additional

Published
2023
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5. Further refinement of COL4A1 and COL4A2 related cortical malformations

Author

Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, and Bahi-Buisson, Nadia

Published
2018
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6. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

Author

Bauché, Stéphanie, Sureau, Alain, Sternberg, Damien, Rendu, John, Buon, Céline, Messéant, Julien, Boëx, Myriam, Furling, Denis, Fauré, Julien, Latypova, Xénia, Gelot, Antoinette Bernabe, Mayer, Michèle, Mary, Pierre, Whalen, Sandra, Fournier, Emmanuel, Cloix, Isabelle, Remerand, Ganaelle, Laffargue, Fanny, Nougues, Marie-Christine, Fontaine, Bertrand, Eymard, Bruno, Isapof, Arnaud, and Strochlic, Laure

Published
2020
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7. Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Author

Masnada, Silvia, primary, Sarret, Catherine, additional, Antonello, Clara Eleonora, additional, Fadilah, Ala, additional, Krude, Heiko, additional, Mura, Eleonora, additional, Mordekar, Santosh, additional, Nicita, Francesco, additional, Olivotto, Sara, additional, Orcesi, Simona, additional, Porta, Francesco, additional, Remerand, Ganaelle, additional, Siri, Barbara, additional, Wilpert, Nina-Maria, additional, Amir-Yazdani, Pouneh, additional, Bertini, Enrico, additional, Schuelke, Markus, additional, Bernard, Geneviève, additional, Boespflug-Tanguy, Odile, additional, and Tonduti, Davide, additional

Published
2022
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8. Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPS dans le phénotype cognitif

Author

Goumy, Carole, primary, Cherik, Florian, additional, Lepage, Mathis, additional, Remerand, Ganaelle, additional, Francannet, Christine, additional, Delabaere, Amélie, additional, Salaun, Gaelle, additional, Pebrel-Richard, Céline, additional, Gouas, Laetitia, additional, Eymard-Pierre, Eleonore, additional, Vago, Philippe, additional, and Tchirkov, Andrei, additional

Published
2021
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11. Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Author

Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen, Lydie, Castellotti, Barbara, Cuntz, Danielle, Desguerre, Isabelle, Doummar, Diane, Estienne, Margherita, Freri, Elena, Heron, Delphine, Moutard, Marie‐Laure, Novara, Francesca, Orcesi, Simona, Saletti, Veronica, Zibordi, Federica, Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Affections de la Myeline et des Canaux Ioniques Musculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Sciences cognitives Marc Jeannerod - Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), CIC CHU Lyon (inserm), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire sur le langage, le cerveau et la cognition (L2C2), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cytogenetics, Fondation 'Neurological Institute C. Mondino ', Fondazione IRCCS Istituto Neurologico 'Carlo Besta', CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])

Subjects
030506 rehabilitation, Pediatrics, medicine.medical_specialty, Muscle Hypotonia, [SDV]Life Sciences [q-bio], Choreoathetosis, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Developmental Neuroscience, Intellectual disability, medicine, Kyphoscoliosis, ComputingMilieux_MISCELLANEOUS, Dystonia, Allan–Herndon–Dudley syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, medicine.disease, Hypotonia, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery
Abstract

The aim of the study was to redefine the phenotype of Allan-Herndon-Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the existing literature. Twenty-four males aged 11 months to 29 years had a mutation in SLC16A2, including 12 novel mutations and five previously described mutations. Sixteen patients presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. This study extends the phenotypic spectrum of AHDS to a mild intellectual disability with hypotonia. Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on initial severity, with stable acquisition after infancy; this may be adversely affected by neuro-orthopaedic, pulmonary, and epileptic complications. WHAT THIS PAPER ADDS: Mild intellectual disability is associated with SLC16A2 mutations. A thyroid hormone profile with a free T3 /T4 ratio higher than 0.75 can help diagnose patients. Patients with SLC16A2 mutations present a broad spectrum of neurological phenotypes that are also observed in other hypomyelinating disorders. Axial hypotonia is a consistent feature of Allan-Herndon-Dudley syndrome and leads to specific complications.

Published
2019

12. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Author

Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen, Lydie, Castellotti, Barbara, Cuntz, Danielle, Desguerre, Isabelle, Doummar, Diane, Estienne, Margherita, Freri, Elena, Heron, Delphine, Moutard, Marie‐Laure, and Novara, Francesca

Subjects
*DISABILITIES, *DEVELOPMENTAL delay, *INTELLECTUAL disabilities, *SYNDROMES, *CEREBRAL atrophy, *OCULAR hypotony, *LEUKODYSTROPHY
Abstract

The aim of the study was to redefine the phenotype of Allan-Herndon-Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the existing literature. Twenty-four males aged 11 months to 29 years had a mutation in SLC16A2, including 12 novel mutations and five previously described mutations. Sixteen patients presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. This study extends the phenotypic spectrum of AHDS to a mild intellectual disability with hypotonia. Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on initial severity, with stable acquisition after infancy; this may be adversely affected by neuro-orthopaedic, pulmonary, and epileptic complications. WHAT THIS PAPER ADDS: Mild intellectual disability is associated with SLC16A2 mutations. A thyroid hormone profile with a free T3 /T4 ratio higher than 0.75 can help diagnose patients. Patients with SLC16A2 mutations present a broad spectrum of neurological phenotypes that are also observed in other hypomyelinating disorders. Axial hypotonia is a consistent feature of Allan-Herndon-Dudley syndrome and leads to specific complications. [ABSTRACT FROM AUTHOR]

Published
2019
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13. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Author

Bauché, Stéphanie, primary, O’Regan, Seana, additional, Azuma, Yoshiteru, additional, Laffargue, Fanny, additional, McMacken, Grace, additional, Sternberg, Damien, additional, Brochier, Guy, additional, Buon, Céline, additional, Bouzidi, Nassima, additional, Topf, Ana, additional, Lacène, Emmanuelle, additional, Remerand, Ganaelle, additional, Beaufrere, Anne-Marie, additional, Pebrel-Richard, Céline, additional, Thevenon, Julien, additional, El Chehadeh-Djebbar, Salima, additional, Faivre, Laurence, additional, Duffourd, Yannis, additional, Ricci, Federica, additional, Mongini, Tiziana, additional, Fiorillo, Chiara, additional, Astrea, Guja, additional, Burloiu, Carmen Magdalena, additional, Butoianu, Niculina, additional, Sandu, Carmen, additional, Servais, Laurent, additional, Bonne, Gisèle, additional, Nelson, Isabelle, additional, Desguerre, Isabelle, additional, Nougues, Marie-Christine, additional, Bœuf, Benoit, additional, Romero, Norma, additional, Laporte, Jocelyn, additional, Boland, Anne, additional, Lechner, Doris, additional, Deleuze, Jean-François, additional, Fontaine, Bertrand, additional, Strochlic, Laure, additional, Lochmuller, Hanns, additional, Eymard, Bruno, additional, Mayer, Michèle, additional, and Nicole, Sophie, additional

Published
2016
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14. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Author

Miguet, Marguerite, Faivre, Laurence, Amiel, Jeanne, Nizon, Mathilde, Touraine, Renaud, Prieur, Fabienne, Pasquier, Laurent, Lefebvre, Mathilde, Thevenon, Julien, Dubourg, Christèle, Julia, Sophie, Sarret, Catherine, Remerand, Ganaelle, Francannet, Christine, Laffargue, Fanny, Boespflug-Tanguy, Odile, David, Albert, Isidor, Bertrand, Vigneron, Jacqueline, Leheup, Bruno, Lambert, Laetitia, Philippe, Christophe, Bèèéri-Dexheimer, Mylèène, Cuisset, Jean-Marie, Andrieux, Joris, Plessis, Ghislaine, Toutain, Annick, Guibaud, Laurent, Cormier-Daire, Valèèéérie, Rio, Marlene, Bonnefont, Jean-Paul, Echenne, Bernard, Journel, Hubert, Burglen, Lydie, Chantot-Bastaraud, Sandrine, Bienvenu, Thierry, Baumann, Clarisse, Perrin, Laurence, Drunat, Sèèéééverine, Jouk, Pierre-Simon, Dieterich, Klaus, Devillard, Francoise, Lacombe, Didier, Philip, Nicole, Sigaudy, Sabine, Moncla, Anne, Missirian, Chantal, Badens, Catherine, Perreton, Nathalie, Thauvin-Robinet, Christel, AChro-Puce, Rèèééééseau, Pedespan, Jean-Michel, Rooryck, Caroline, Goizet, Cyril, Vincent-Delorme, Catherine, Duban-Bedu, Bèèééééénèèéééééédicte, Bahi-Buisson, Nadia, Afenjar, Alexandra, Maincent, Kim, Hèèéééééééron, Delphine, Alessandri, Jean-Luc, Martin-Coignard, Dominique, Lesca, Gaetan, Rossi, Massimiliano, Raynaud, Martine, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Coutton, Charles, Satre, Vèèééééééééronique, Caignec, Cèèééééééééédric Le, Malan, Valèèéééééééééérie, Romana, Serge, Keren, Boris, Tabet, Anne-Claude, Kremer, Valèèééééééééééérie, Scheidecker, Sophie, Vigouroux, Adeline, Lackmy-Port-Lis, Marilyn, Sanlaville, Damien, Till, Marianne, Carneiro, Maryline, Gilbert-Dussardier, Brigitte, Willems, Marjolaine, Van Esch, Hilde, Portes, Vincent Des, and El Chehadeh, Salima

Abstract

The Xq28 duplication involving the MECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.

Published
2018
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15. Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPSdans le phénotype cognitif

Author

Goumy, Carole, Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaelle, Pebrel-Richard, Céline, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, and Tchirkov, Andrei

Abstract

Le syndrome microdélétionnel 10q26 correspond à un syndrome rare et cliniquement hétérogène. La corrélation génotype-phénotype reste aujourd’hui mal établie. Nous rapportons deux nouvelles personnes (un garçon de 22 mois et sa mère) présentant une délétion 10q26.2 de 860kb. L’ACPA avait été réalisée en prénatal en raison d’un retard de croissance intra-utérin. La région délétée contenait seulement 4 gènes codants : DOCK1, INSYN2, NPSand FOX12.À la naissance, le proband présentait des particularités morphologiques faciales avec un front haut, des oreilles mal ourlées, un nez proéminent, et une rétrognathie; ainsi que des pieds bots bilatéraux et une clinodactylie. À l’âge de 22 mois, il présentait un retard psychomoteur global. Sa mère présentait une taille et un périmètre crânien à la limite inférieure de la normale, un visage allongé avec un front haut et une rétraction bitemporale, des sourcils arqués et clairsemés, un strabisme, un nez et un menton proéminents, une lèvre supérieure fine et des oreilles larges et décollées. Elle a présenté des difficultés d’apprentissage importantes. Cette délétion est la plus petite délétion décrite dans la littérature et permet d’affiner la région minimale critique du syndrome 10q26. Trois gènes candidats pourraient participer au phénotype : le gène DOCK1, déjà considéré comme le gène candidat principal, et les gènes INSYN2 and NPSqui pourraient être impliqués dans le phénotype cognitif.

Published
2021
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