المؤلفون: Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Franceschetti S; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy., Milligan CJ; Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia., Muona M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.; Neuroscience Center, University of Helsinki, Helsinki, Finland., Mandelstam SA; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Departments of Paediatrics and Radiology, University of Melbourne, Melbourne, Victoria, Australia.; Department of Medical Imaging, Royal Children's Hospital, Melbourne, Victoria, Australia., Canafoglia L; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy., Boguszewska-Chachulska AM; Genomed Health Care Center, Genomed, Warsaw, Poland., Korczyn AD; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bisulli F; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Di Bonaventura C; Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy., Ragona F; Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy., Michelucci R; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Unit of Neurology, Bellaria Hospital, Bologna, Italy., Ben-Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Straussberg R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tikvah, Israel., Panzica F; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy., Massano J; Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.; Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal., Friedman D; Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY., Crespel A; Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France., Engelsen BA; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Andermann F; Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.; Departments of Neurology & Neurosurgery and Paediatrics, McGill University, Montreal, Quebec, Canada., Andermann E; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.; Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canada., Spodar K; Genomed Health Care Center, Genomed, Warsaw, Poland., Lasek-Bal A; High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland., Riguzzi P; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Unit of Neurology, Bellaria Hospital, Bologna, Italy., Pasini E; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Unit of Neurology, Bellaria Hospital, Bologna, Italy., Tinuper P; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Licchetta L; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Gardella E; Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark., Lindenau M; Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany., Wulf A; Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany., Møller RS; Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark., Benninger F; Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel., Afawi Z; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Rubboli G; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.; Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark., Reid CA; Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia., Maljevic S; Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany., Lerche H; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany., Lehesjoki AE; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.; Neuroscience Center, University of Helsinki, Helsinki, Finland., Petrou S; Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.; Centre for Neural Engineering, Department of Electrical Engineering, University of Melbourne, Parkville, Victoria, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

المصدر: Annals of neurology [Ann Neurol] 2017 May; Vol. 81 (5), pp. 677-689.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia*/complications , Ataxia*/diagnostic imaging , Ataxia*/genetics , Ataxia*/physiopathology , Epilepsies, Myoclonic*/complications , Epilepsies, Myoclonic*/diagnostic imaging , Epilepsies, Myoclonic*/genetics , Epilepsies, Myoclonic*/physiopathology , Hot Temperature*, Cognitive Dysfunction/*etiology , Shaw Potassium Channels/*metabolism, Adolescent ; Adult ; Age of Onset ; Electroencephalography ; Female ; HEK293 Cells ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Pedigree ; Shaw Potassium Channels/genetics ; Syndrome ; Young Adult

المؤلفون: Knaus A; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin, 14195, Germany.; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité Campus Virchow Klinikum, Augustenburger Platz 1, Berlin, 13353, Germany., Awaya T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Sakyo, Kyoto, 6068507, Japan., Helbig I; Division of Child Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104-4399.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel 24105, Germany., Afawi Z; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel 24105, Germany., Abu-Rachma J; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Thompson MD; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Cole DE; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Skinner S; Greenwood Genetic Center, Greenwood, South Carolina., Annese F; Greenwood Genetic Center, Greenwood, South Carolina., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, HA1 3UJ, UK., Schweiger MR; Epigenomics and Tumor Genetics, CCG, University of Cologne, Cologne, 50931, Germany., Robinson PN; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin, 14195, Germany., Mundlos S; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin, 14195, Germany., Kinoshita T; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, 565, Japan.; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, 565, Japan., Munnich A; Hôpital Necker - Enfants Malades, Unité INSERM 781, Laboratoire de génétique moléculaire Tour Lavoisier - 2ème étage, Paris Cedex, 15 75743, France., Murakami Y; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, 565, Japan.; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, 565, Japan., Horn D; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany., Krawitz PM; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin, 14195, Germany.

المصدر: Human mutation [Hum Mutat] 2016 Aug; Vol. 37 (8), pp. 737-44. Date of Electronic Publication: 2016 May 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Polymorphism, Single Nucleotide*, Abnormalities, Multiple/*genetics , Abnormalities, Multiple/*pathology , Intellectual Disability/*genetics , Intellectual Disability/*pathology , Phosphorus Metabolism Disorders/*genetics , Phosphorus Metabolism Disorders/*pathology , RNA, Messenger/*genetics , Receptors, Cell Surface/*genetics, 3' Untranslated Regions ; Adolescent ; Adult ; Carboxylic Ester Hydrolases ; Cells, Cultured ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Introns ; Male ; Pedigree ; Sequence Analysis, DNA/methods ; Young Adult

SCR Disease Name: Hyperphosphatasia with Mental Retardation

المؤلفون: Bagnall RD; Agnes Ginges Center for Molecular Cardiology, Centenary Institute, Sydney, Australia.; Sydney Medical School, University of Sydney, Sydney, Australia., Crompton DE; Neurology Department, Northern Health, Melbourne, Australia.; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Petrovski S; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Institute for Genomic Medicine, Columbia University, New York, NY., Lam L; Agnes Ginges Center for Molecular Cardiology, Centenary Institute, Sydney, Australia.; Sydney Medical School, University of Sydney, Sydney, Australia., Cutmore C; Agnes Ginges Center for Molecular Cardiology, Centenary Institute, Sydney, Australia.; Sydney Medical School, University of Sydney, Sydney, Australia., Garry SI; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Sadleir LG; Department of Pediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand., Dibbens LM; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia., Cairns A; Neurosciences Department, Lady Cilento Children's Hospital, Brisbane, Australia., Kivity S; Epilepsy Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel., Afawi Z; Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel., Regan BM; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Duflou J; Sydney Medical School, University of Sydney, Sydney, Australia.; Department of Forensic Medicine, Sydney, Australia., Berkovic SF; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Scheffer IE; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.; Florey Institute of Neurosciences and Mental Health, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia., Semsarian C; Agnes Ginges Center for Molecular Cardiology, Centenary Institute, Sydney, Australia.; Sydney Medical School, University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

المصدر: Annals of neurology [Ann Neurol] 2016 Apr; Vol. 79 (4), pp. 522-34. Date of Electronic Publication: 2016 Feb 02.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Exome*, Arrhythmias, Cardiac/*genetics , Death, Sudden/*etiology , Epilepsy/*genetics , Respiration Disorders/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genes, Dominant ; Humans ; Infant ; Long QT Syndrome/genetics ; Male ; Middle Aged ; Mutation ; Young Adult

المؤلفون: Arsov T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE

المصدر: Annals of neurology [Ann Neurol] 2012 Nov; Vol. 72 (5), pp. 807-15.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Carbohydrate Metabolism, Inborn Errors/*complications , Carbohydrate Metabolism, Inborn Errors/*genetics , Epilepsy, Generalized/*etiology , Epilepsy, Generalized/*genetics , Glucose Transporter Type 1/*genetics, Adult ; Aged ; Animals ; DNA Mutational Analysis ; Evolution, Molecular ; Female ; Follow-Up Studies ; Genotype ; Glucose Transporter Type 1/deficiency ; Humans ; Male ; Middle Aged ; Monosaccharide Transport Proteins/deficiency ; Monosaccharide Transport Proteins/genetics ; Mutation/genetics ; Phenotype ; Young Adult

SCR Disease Name: Epilepsy, Idiopathic Generalized; Glut1 Deficiency Syndrome