المؤلفون: Courage C; Folkhälsan Research Center, Helsinki 00290, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland., Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, the University of Melbourne, Melbourne, VIC 3010, Australia., Park EJ; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA., Cameron JM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia., Grabińska KA; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA., Muona M; Folkhälsan Research Center, Helsinki 00290, Finland; Blueprint Genetics, Espoo 02150, Finland., Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Gambardella A; Institute of Neurology, University Magna Græcia, Catanzaro 88100, Italy., Said E; Section of Medical Genetics, Mater dei Hospital, Msida MSD2090, Malta; Department of Anatomy and Cell Biology, University of Malta, Msida MSD2090, Malta., Afawi Z; Center for Neuroscience, Ben-Gurion University of the Negev, Be'er Sheva 8410402, Israel., Baykan B; Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34452, Turkey., Brandt C; Epilepsy Center Bethel, Bielefeld 33617, Germany., di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185 Rome, Italy., Chew HB; Genetics Department, Kuala Lumpur Hospital, Ministry of Health Malaysia, Jalan Pahang, 50586 Kuala Lumpur, Malaysia., Criscuolo C; Department of Neuroscience, Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples 80138, Italy., Dibbens LM; Epilepsy Research Group, Australian Centre for Precision Health, UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA 5000, Australia., Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Istituto Neurologico Carlo Besta Milan 20133, Italy., Riguzzi P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna 40139, Italy., Labate A; Institute of Neurology, University Magna Græcia, Catanzaro 88100, Italy., Filla A; Department of Neuroscience, Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples 80138, Italy., Giallonardo AT; Neurology Unit, Human Neurosciences Department, Sapienza University, Rome 00185, Italy., Berecki G; Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia., Jackson CB; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland., Joensuu T; Folkhälsan Research Center, Helsinki 00290, Finland., Damiano JA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia., Kivity S; Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tiqvah 4922297, Israel., Korczyn A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 60198, Israel., Palotie A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00290, Finland; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry Massachusetts General Hospital, Boston, MA 02114, USA; The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Boston, MA 02142, USA., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini,' Genova 16147, Italy., Uccellini D; Neurology - Neurophysiology Unit, ASST dei Sette Laghi, Galmarini Tradate Hospital, Tradate 21049, Italy., Giuliano L; Dipartimento 'G.F. Ingrassia,' Università degli Studi di Catania, Catania 95131, Italy., Andermann E; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, QC H3A 2B4, Canada; Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; The Florey Institute, Parkville, VIC 3052, Australia., Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna 40139, Italy., Bahlo M; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, the University of Melbourne, Melbourne, VIC 3010, Australia., Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Sessa WC; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia. Electronic address: s.berkovic@unimelb.edu.au., Lehesjoki AE; Folkhälsan Research Center, Helsinki 00290, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland. Electronic address: anna-elina.lehesjoki@helsinki.fi.

المصدر: American journal of human genetics [Am J Hum Genet] 2021 Apr 01; Vol. 108 (4), pp. 722-738.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Dolichols/*metabolism , Mutation/*genetics , Myoclonic Epilepsies, Progressive/*genetics, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Cohort Studies ; DNA Copy Number Variations/genetics ; Female ; Glycosylation ; Humans ; Introns/genetics ; Male ; Middle Aged ; Myoclonic Epilepsies, Progressive/classification ; Exome Sequencing ; Young Adult

المؤلفون: Muona M; 1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Folkhälsan Institute of Genetics, Helsinki, Finland. [3] Neuroscience Center, University of Helsinki, Helsinki, Finland. [4] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Berkovic SF; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Dibbens LM; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia., Oliver KL; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Maljevic S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Bayly MA; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia., Joensuu T; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Canafoglia L; Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy., Franceschetti S; Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy., Michelucci R; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy., Markkinen S; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Heron SE; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia., Hildebrand MS; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Andermann E; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada., Andermann F; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada., Gambardella A; Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Tinuper P; 1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Licchetta L; 1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Scheffer IE; 1] Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. [2] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [3] Department of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia., Criscuolo C; Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy., Filla A; Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy., Ferlazzo E; 1] Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. [2] Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy., Ahmad J; Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan., Ahmad A; Department of Medicine, Mayo Hospital, Lahore, Pakistan., Baykan B; 1] Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. [2] Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey., Said E; 1] Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. [2] Section of Medical Genetics, Mater dei Hospital, Msida, Malta., Topcu M; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Riguzzi P; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy., King MD; 1] Department of Neurology, Temple Street Children's University Hospital, Dublin, Ireland. [2] Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Ozkara C; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Andrade DM; Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada., Engelsen BA; 1] Department of Clinical Medicine, University of Bergen, Bergen, Norway. [2] Department of Neurology, Haukeland University Hospital, Bergen, Norway., Crespel A; Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France., Lindenau M; Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany., Lohmann E; 1] Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany. [2] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [3] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Saletti V; Developmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy., Massano J; 1] Department of Neurology, Centro Hospitalar São João, Porto, Portugal. [2] Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal., Privitera M; Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA., Espay AJ; Gardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA., Kauffmann B; Klinikum Links der Weser, Bremen, Germany., Duchowny M; 1] Brain Institute, Miami Children's Hospital, Miami, Florida, USA. [2] Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA., Møller RS; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Straussberg R; 1] Neurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel. [2] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel., Afawi Z; 1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel., Ben-Zeev B; 1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel., Samocha KE; 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Daly MJ; 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Petrou S; 1] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australia., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Palotie A; 1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [3] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [5] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. [6] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. [7] Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Lehesjoki AE; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

المصدر: Nature genetics [Nat Genet] 2015 Jan; Vol. 47 (1), pp. 39-46. Date of Electronic Publication: 2014 Nov 17.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Point Mutation*, Myoclonic Epilepsies, Progressive/*genetics , Shaw Potassium Channels/*genetics, Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Base Sequence ; Carrier Proteins/genetics ; Conserved Sequence ; Exome ; Female ; GTPase-Activating Proteins ; Genes, Dominant ; Heat-Shock Proteins/genetics ; Humans ; Male ; Membrane Proteins ; Molecular Sequence Data ; Nerve Tissue Proteins ; Pedigree ; Prion Proteins ; Prions/genetics ; Protein Conformation ; Sequence Alignment ; Sequence Homology, Amino Acid ; Shaw Potassium Channels/physiology ; Species Specificity

المؤلفون: Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI

المصدر: American journal of human genetics [Am J Hum Genet] 2008 Nov; Vol. 83 (5), pp. 572-81. Date of Electronic Publication: 2008 Oct 30.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Homozygote* , Mutation*, Ataxia/*genetics , Myoclonic Epilepsies, Progressive/*genetics , Tumor Suppressor Proteins/*genetics, Amino Acid Sequence ; Chromosomes, Human, Pair 12 ; Consanguinity ; Genes, Recessive ; Genetic Markers ; Haplotypes ; Humans ; LIM Domain Proteins ; Male ; Microsatellite Repeats ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Physical Chromosome Mapping ; Syndrome