المؤلفون: Elena Gardella, Diane Doummar, Orrin Devinsky, Nicola Specchio, Holly Dubbs, Lance H. Rodan, Caroline Nava, Elise Schaefer, Jessica E. Shaw, Desiree Czapansky-Beilman, Tarja Linnankivi, Rikke S. Møller, Helenius J. Schelhaas, Kathrine L. Helbig, Jakob Christensen, Jamel Chelly, Gemma L. Carvill, Sarah E. Hopkins, Sara Chadwick Reichert, Marina Trivisano, Amélie Piton, Candace T. Myers, Pasquale Striano, Katrine M Johannesen, Alexandra Afenjar, Judith S. Verhoeven, John Millichap, Yongjin Yoo, Oriano Mecarelli, Murim Choi, Jong Hee Chae, Joseph G. Gleeson, Heather C Mefford, Gaetan Lesca, Laura Pisani, Boris Keren, Sha Tang, Marie Thérèse Abi-Warde, Carolina Courage, Ingo Helbig, Deb K. Pal, Guido Rubboli, Lynne M. Bird, Manuela Pendziwiat, Cyril Mignot, Shan Tang, J. Lawrence Merritt, Yvonne G. Weber, Anna-Elina Lehesjoki, Wen-Hann Tan, Anne de Saint Martin, Mark Nespeca

المساهمون: University of Southern Denmark (SDU), CHU Strasbourg, Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Boston Children's Hospital, Seoul National University [Seoul] (SNU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), University of Genoa (UNIGE), Children’s Hospital of Philadelphia (CHOP )

المصدر: Epilepsia
Epilepsia, Wiley, 2018, 32 (2), pp.389-402. ⟨10.1111/epi.13986⟩
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Rubboli, G & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A-E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M-T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W-H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Helbig, I, Rubboli, G, Mefford, H C & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Epilepsia, vol 59, iss 2

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Epilepsies, Myoclonic, Epilepsies, Neurodegenerative, Epilepsies, Myoclonic/complications, Intellectual Disability/complications, Cohort Studies, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, Neurodevelopmental Disorders/complications, Aetiology, Valproic Acid/therapeutic use, Child, Atonic seizure, Ataxia/complications, Seizure types, Anticonvulsants/therapeutic use, Electroencephalography, MAE, Language Development Disorders/complications, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Neurological, Speech delay, Anticonvulsants, Epilepsy, Generalized, Female, medicine.symptom, Partial, Adult, GABA Plasma Membrane Transport Proteins, medicine.medical_specialty, SLC6A1, epilepsy, epilepsy genetics, Adolescent, Epilepsies, Partial/complications, Epilepsy, Generalized/complications, Clinical Sciences, Mutation, Missense, GABA Plasma Membrane Transport Proteins/genetics, Status epilepticus, Article, Young Adult, 03 medical and health sciences, Childhood absence epilepsy, Clinical Research, Intellectual Disability, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Generalized epilepsy, Preschool, Genetic Association Studies, Neurology & Neurosurgery, Generalized, business.industry, Valproic Acid, Neurosciences, medicine.disease, Brain Disorders, 030104 developmental biology, Myoclonic astatic epilepsy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Mutation, Ataxia, Epilepsies, Partial, Neurology (clinical), Missense, Myoclonic, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d17b86f7659d7ea2518638ed36fe82
http://hdl.handle.net/11573/1076617

المؤلفون: Peter Mariën, Jo Verhoeven, Peter Paul De Deyn, Sebastiaan Engelborghs, Peggy Wackenier

المساهمون: Clinical sciences, Neurology

المصدر: Cortex

مصطلحات موضوعية: Foreign accent syndrome, Adult, Male, medicine.medical_specialty, Cognitive Neuroscience, Articulation Disorders/complications, Experimental and Cognitive Psychology, Context (language use), Multilingualism, Audiology, Specific language impairment, Stress (linguistics), Motor speech, Motor speech disorders, medicine, Psychogenic disease, Humans, Articulation Disorders, Language Development Disorders, Child, Medicine(all), Movement Disorders/complications, Movement Disorders, Verbal Behavior, Speech Intelligibility, Syndrome, medicine.disease, Linguistics, P1, Language development, Language Development Disorders/complications, Neuropsychology and Physiological Psychology, Female, Human medicine, Psychology

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a958746dad7ddb7103734d2551d6676
https://pubmed.ncbi.nlm.nih.gov/19121521