المؤلفون: Curie, A, Yang, K, Kirsch, I, Gollub, RL, Portes, VD, Kaptchuk, TJ, Jensen, KB

المصدر: PloS one. 10(7):e0133316

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131763771

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المؤلفون: Panagiotakaki E; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCare, University Hospitals of Lyon (HCL), Lyon, France., Tiziano FD; Institute of Genomic Medicine, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy., Mikati MA; Division of Pediatric Neurology and Developmental Medicine, Duke University, Durham, NC, USA., Vijfhuizen LS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Nicole S; Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, Montpellier, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon France - Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Abiusi E; Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Roma, Italy., Novelli A; Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Roma, Italy., Di Pietro L; Institute of Genomic Medicine, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.; Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Roma, Italy., Harder AVE; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Walley NM; Department of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NC, USA., De Grandis E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Poulat AL; Pediatric Neurology Department, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Portes VD; Pediatric Neurology Department, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Lépine A; Service de neuropédiatrie, Centre hospitalo universitaire de la Timone, Marseille, France., Nassogne MC; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Service de Neurologie Pédiatrique, Member of the ERN MetabERN, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCare, University Hospitals of Lyon (HCL), Lyon, France.; Department of Child Neurology and Epilepsy Research Unit, Member of the ERN EpiCARE, Hospital San Juan de Dios, Barcelona, Spain., Vavassori R; Euro-Mediterranean Institute for Science and Technology I.E.ME.S.T., Palermo, Italy., Koenderink J; Department of Pharmacology and Toxicology, Radboud University Medical Center, Nijmegen, The Netherlands., Thompson CH; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Gurrieri F; Department of Medicine, Research Unit of Medical Genetics, Università Campus Bio-Medico di Roma, Roma, Italy.; Operative Research Unit of Medical Genetics Fondazione Policlinico Universitario Campus Bio-Medico, Roma, Italy., van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl., Heinzen EL; Division of Pharmacology and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. eheinzen@unc.edu.; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. eheinzen@unc.edu.

مؤلفون مشاركون: I.B.AHC Consortium, IAHCRC Consortium

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Feb; Vol. 32 (2), pp. 224-231. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hemiplegia*/diagnosis , Hemiplegia*/genetics , Mutation, Missense*, Humans ; Exome Sequencing ; Mutation ; Sodium-Potassium-Exchanging ATPase/genetics ; GTP-Binding Proteins/genetics ; Tumor Suppressor Proteins/genetics ; NAV1.2 Voltage-Gated Sodium Channel/genetics

SCR Disease Name: Alternating hemiplegia of childhood

المؤلفون: Nguyen T; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Heide S; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Guilbaud L; Service de médecine fœtale, Hôpital Armand-Trousseau, Sorbonne Université, APHP, DMU ORIGYNE, Paris, France., Valence S; Service de neuropédiatrie, Hôpital Armand-Trousseau, Paris, France., Perre SV; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Blondiaux E; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Keren B; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Quenum-Miraillet G; Service de génétique médicale, Hôpital Armand-Trousseau, Paris, France., Jouannic JM; Service de médecine fœtale, Hôpital Armand-Trousseau, Sorbonne Université, APHP, DMU ORIGYNE, Paris, France., Mandelbrot L; Service de gynécologie obstétrique, Hôpital Louis-Mourier, Colombes, France., Picone O; Service de gynécologie obstétrique, Hôpital Louis-Mourier, Colombes, France., Guet A; Service de neuropédiatrie, Hôpital Louis-Mourier, Colombes, France., Tsatsaris V; Service de gynécologie obstétrique, Hôpital Cochin-Port Royal, Paris, France., Milh M; Service de neuropédiatrie, CHU de Marseille, AP-HM, Marseille, France., Girard N; Service de neuroradiologie, CHU de Marseille, AP-HM, Marseille, France., Vincent M; Service de génétique, CHU de Nantes, Nantes, France., Nizon M; Service de génétique, CHU de Nantes, Nantes, France., Poirsier C; Service de génétique, CHU de Reims, Reims, France., Vivanti A; Service de gynécologie obstétrique, CHU Antoine Béclère, Clamart, France., Benachi A; Service de gynécologie obstétrique, CHU Antoine Béclère, Clamart, France., Portes VD; Service de neuropédiatrie, Hôpital Femme Mère Enfant, Lyon, France., Guibaud L; Service d'imagerie pédiatrique et fœtale, Hôpital Femme Mère Enfant, Lyon, France., Patat O; Service de génétique médicale, Hôpital Purpan, Toulouse, France., Spentchian M; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Frugère L; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Héron D; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Garel C; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France.

المصدر: Prenatal diagnosis [Prenat Diagn] 2023 Jun; Vol. 43 (6), pp. 746-755. Date of Electronic Publication: 2023 May 23.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Corpus Callosum*/diagnostic imaging , Ultrasonography, Prenatal*/methods, Pregnancy ; Female ; Humans ; Retrospective Studies ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/genetics ; Magnetic Resonance Imaging/methods ; Genotype ; Phenotype ; Chloride Channels ; Prenatal Diagnosis

المؤلفون: von Rotz L; Lorna von Rotz, University of Fribourg, Switzerland., Courbois Y; Yannick Courbois, University of Lille, France., Portes VD; Vincent Des Portes, University Hospital Center of Lyon and Lyon-1 University, France., Lacroix A; Agnès Lacroix, University of Rennes, France., Reymond MP; Marie-Pierre Reymond, University Hospital Center of Lyon, France., Tassé MJ; Marc J. Tassé, The Ohio State University Nisonger Center., Touil N; Nathalie Touil, University Hospital Center of Lyon, France., Tsao R; Raphaele Tsao, University of Aix-Marseille, France., Straccia C; Claudio Straccia, University of Fribourg, Switzerland.

المصدر: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2023 Mar 01; Vol. 128 (2), pp. 176-180.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

مواضيع طبية MeSH: Adaptation, Psychological* , Translating*, Humans ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires

المؤلفون: Gokce-Samar Z; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France. Electronic address: zeynep.gokce-samar@chu-lyon.fr., de Bellescize J; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France., Putoux A; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Chatron N; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Lesca G; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Portes VD; Department of Pediatric Neurology; Member of ERN-EpiCARE; Rare Disease Reference Centre for Intellectual Disability, University Hospitals of Lyon (HCL), And University Lyon1, Lyon, France.

المصدر: European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104636. Date of Electronic Publication: 2022 Oct 07.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Absence*/complications , Intellectual Disability*/genetics , Intellectual Disability*/complications , Myoclonus*/genetics, Humans ; Electroencephalography ; Seizures ; Eyelids ; Cell Cycle Proteins

المؤلفون: Bonardi CM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy., Heyne HO; Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA., Fiannacca M; Radiology Department, University of Genoa, 16126 Genoa, Italy., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands., Olofsson K; Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark., Lesca G; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France., Verbeek N; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Stamberger H; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Striano P; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, 75013 Paris, France., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Buono S; Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013, Paris, France., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Sarret C; Service de Neuropédiatrie, CHU de Clermont-Ferrand, 6310 Clermont-Ferrand, France., Baumgartner T; Department of Epileptology, University of Bonn, D-53105 Bonn, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105 Kiel, Germany., Portes VD; Neuropaediatrics Department, Femme Mère Enfant Hospital, 69500 Lyon, France., Toulouse J; Epileptology, Sleep Disorders and Functional Pediatric Neurology CHU Lyon, 69500 Bron, France., Nougues MC; Neuropaediatrics Department, Hospital Armand Trousseau, APHP, 75012 Paris, France., Rossi M; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, GENDEV Team, Claude Bernard Lyon 1 University, 69675 Bron, France., Demarquay G; Service de neurologie fonctionnelle et épileptologie, Neurological Hospital, 69677 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, NeuroPain, 69677 Bron, France., Ville D; Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France., Hirsch E; Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, 67100 Strasbourg, France., Maurey H; Department of Pediatric Neurology, Hopital Bicêtre, Le Kremlin-Bicêtre, 94270 Paris, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, 34090 Montpellier, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, 69677 Bron, Lyon, France., Altuzarra CD; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, 13005 Marseille, France., Bartolomei F; Epileptology Department, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, 13005 Marseille, France., Picard F; Department of Clinical Neurosciences, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103 Leipzig, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), 6525 GA Nijmegen, The Netherlands., Kroes HY; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Reale C; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dibbens L; Epilepsy Research Group, UniSA Clinical and Health Sciences, University of South Australia, and Australian Centre for Precision Health, SA 5001 Adelaide, Australia., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY14642, USA., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.

المصدر: Brain : a journal of neurology [Brain] 2021 Dec 31; Vol. 144 (12), pp. 3635-3650.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Nerve Tissue Proteins/*genetics , Potassium Channels, Sodium-Activated/*genetics, Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genotype ; Humans ; Infant ; Male ; Mutation ; Phenotype ; Young Adult

المؤلفون: Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU Angers, France. Electronic address: Marie.Le-Roux@chu-angers.fr., Barth M; Department of Medical Genetics, CHU Angers, France., Gueden S; Department of Pediatric Neurology and Neurosurgery, CHU Angers, France., Desbordes de Cepoy P; Department of Pediatric Radiology, CHU Angers, France., Aeby A; Department of Pediatric Neurology, HUDERF, Bruxelles, Belgium., Vilain C; Department of Medical Genetics, Erasme Hospital, Bruxelles, Belgium., Hirsch E; Department of Neurology, CHU Strasbourg, France., de Saint Martin A; Department of Pediatrics, CHU Strasbourg, France., Portes VD; Department of Pediatric Neurology, Hospices civils de Lyon, Bron, France., Lesca G; Department of Genetics, Hospices civils de Lyon, Bron, France., Riquet A; Department of Pediatric Neurology, CHRU Lille, France., Chaton L; Department of Neurophysiology, CHRU Lille, France., Villeneuve N; Department of Pediatric Neurology, Hôpital de La Timone, AP-HM, Marseille, France., Villard L; Department of Medical Genetics, Hôpital de La Timone, AP-HM, Marseille, France; Aix Marseille Univ, Inserm, Marseille Medical Genetics, U1251, Marseille, France., Cances C; Department of Pediatric Neurology, CHU Purpan, Toulouse, France., Valton L; Explorations Neurophysiologiques, CHU Purpan, Toulouse, France; Centre de Recherche Cerveau et Cognition (CerCo), University of Toulouse, Toulouse F, 31300, France., Renaldo F; Department of Pediatric Neurology, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, France., Vermersch AI; Department of Neurophysiology, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, France., Altuzarra C; Department of Pediatrics, CHU Besançon, France., Nguyen-Morel MA; Department of Pediatric Neurology, CHU Grenoble Alpes, France., Van Gils J; Department of Medical Genetics, CHU Bordeaux Pellegrin, Bordeaux, France., Angelini C; Department of Medical Genetics, CHU Bordeaux Pellegrin, Bordeaux, France., Biraben A; Department of Neurology, CHU Rennes Pontchaillou, Rennes, France., Arnaud L; Department of Genetics, Hôpital de la Pitie Salpetrière, Assistance publique-Hôpitaux de Paris, France., Riant F; Department of Genetics, Groupe hospitalier Saint Louis-Lariboisière, Assistance publique-Hôpitaux de Paris, France., Van Bogaert P; Department of Pediatric Neurology and Neurosurgery, CHU Angers, France; Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers, France.

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Jul; Vol. 33, pp. 75-85. Date of Electronic Publication: 2021 May 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/drug therapy , Epilepsy*/genetics , Seizures*/etiology , Seizures*/genetics, Calcium Channels/*genetics, Ataxia ; Child, Preschool ; Female ; Humans ; Male ; Spinocerebellar Ataxias

المؤلفون: Heide S; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France. solveig.heide@aphp.fr., Spentchian M; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Valence S; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France., Buratti J; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Mach C; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Lejeune E; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Olin V; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Massimello M; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Lehalle D; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Mouthon L; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Whalen S; Service de Génétique Clinique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France., Faudet A; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Mignot C; UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Garel C; Service de Radiologie Pédiatrique, Hôpital Armand Trousseau, HUEP, APHP Sorbonne Université, Paris, France., Blondiaux E; Service de Radiologie Pédiatrique, Hôpital Armand Trousseau, HUEP, APHP Sorbonne Université, Paris, France., Lefebvre M; Service de Foetopathologie, Hôpital Armand Trousseau, HUEP, APHP Sorbonne Université, Paris, France., Quenum-Miraillet G; Service de Cytogénétique, Hôpital Armand Trousseau, HUEP, APHP Sorbonne Université, Paris, France., Chantot-Bastaraud S; Service de Cytogénétique, Hôpital Armand Trousseau, HUEP, APHP Sorbonne Université, Paris, France., Milh M; Service de Neurologie Pédiatrique, Hôpital La Timone, APHM, Marseille, France., Bretelle F; Service de Gynécologie Obstétrique, Hôpital Nord, APHM, Aix-Marseille Université, Marseille, France., Portes VD; Service de Neurologie Pédiatrique, Hospices Civils de Lyon, Bron, France., Guibaud L; Service de Radiologie Pédiatrique, Hospices Civils de Lyon, Bron, France., Putoux A; Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France., Tsatsaris V; Service de Gynécologie Obstétrique, Hôpital Cochin, Paris, France., Spodenkiewic M; Service de Génétique Clinique, CHU de Reims, Reims, France., Layet V; Service de Génétique Clinique, Hôpital du Havre, Le Havre, France., Dard R; Service de Génétique Clinique, Hôpital de Poissy, Poissy, France., Mandelbrot L; Service de Gynécologie Obstétrique, APHP, Université de Paris, Hôpital Louis Mourier, Colombes, France., Guet A; Service de Pédiatrie, APHP, Hôpital Louis Mourier, Colombes, France., Moutton S; Service de Génétique Clinique, CHU de Dijon, Dijon, France., Gorce M; Service de Génétique Clinique, CHU d'Angers, Angers, France., Nizon M; Service de Génétique Clinique, CHU de Nantes, Nantes, France., Vincent M; Service de Génétique Clinique, CHU de Nantes, Nantes, France., Beneteau C; Service de Génétique Clinique, CHU de Nantes, Nantes, France., Rocchisanni MA; Service de Médecine Néonatale, Hôpital Cochin, APHP, Paris, France., Benachi A; Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, APHP, Université Paris Saclay, Clamart, France., Saada J; 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المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Nov; Vol. 22 (11), pp. 1887-1891. Date of Electronic Publication: 2020 Jun 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Corpus Callosum*/diagnostic imaging , Exome*/genetics, Child ; Female ; Fetus/diagnostic imaging ; Humans ; Pregnancy ; Prospective Studies ; Ultrasonography, Prenatal