المؤلفون: Bobby P. C. Koeleman, Burbach Jph, van Haaften Gw, van Zandvoort Mj, Eva H. Brilstra, Ellen V. S. Hessel, van der Spek Pj, de Kovel Cg, Nijboer Tc, van der Zwaag B, Troelstra C

مصطلحات موضوعية: Genetics, MYO15A, Candidate gene, Genetic linkage, Agnosia, Trait, medicine, Identification (biology), Biology, medicine.symptom, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::afecf9bf53b5212653d945ee563a9423
https://doi.org/10.1101/2021.10.01.21263387

المؤلفون: Hardies, K, Cai, Y, Jardel, C, Jansen, Ac, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, Sa, Helbig, Kl, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, Afawi, Z, Baulac, S, Barisic, N, Caglayan, H, Craiu, D, De Kovel CG, Lopez, Rg, Guerrini, R, Hjalgrim, H, Lerche, H, Jahn, J, Klein, Km, Koeleman, Bc, Leguern, E, Lemke, J, Marini, C, Muhle, H, Rosenow, F, Serratosa, Jm, Štěrbová, Ks, Møller, Rs, Palotie, A, Striano, P, Weber, Y, Zara, F.

المساهمون: Mental Health and Wellbeing research group, Public Health Sciences, Neurogenetics, Clinical sciences, AR Working Grp, EuroEPINOMICS RES Consortium

المصدر: Hardies, K, Cai, Y, Jardel, C, Jansen, A C, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, S A, Helbig, K L, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2016, ' Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline ', Brain, vol. 139, no. 9, pp. 2420-2430 . https://doi.org/10.1093/brain/aww180
Brain

مصطلحات موضوعية: Male, 0301 basic medicine, Drug Resistant Epilepsy, medicine.medical_specialty, Phosphatase, Nerve Tissue Proteins, Biology, Compound heterozygosity, SYNJ1, Cohort Studies, Consanguinity, 03 medical and health sciences, Epilepsy, Arts and Humanities (miscellaneous), SYNJ1 dual phosphatase activity, Polyphosphoinositide Phosphatase, Internal medicine, early onset epilepsy, medicine, Journal Article, Humans, Missense mutation, Exome, Age of Onset, Child, neurodegenerative disorder, recessive disorder, Medicine (all), Neurology (clinical), Exome sequencing, Synaptic vesicle endocytosis, Genetics, Neurodegenerative Diseases, Heterozygote advantage, Original Articles, Neurodegenerative disorder, medicine.disease, Phosphoric Monoester Hydrolases, Pedigree, Phenotype, 030104 developmental biology, Endocrinology, Child, Preschool, Female, Human medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd42340579b3b03b62e8e3ec7cc4317
https://portal.findresearcher.sdu.dk/da/publications/05f17da4-d544-415c-a1e4-0c98d4a00697

المؤلفون: Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T, EPICURE Consortium, COPPOLA, ANTONIETTA, DEL GIUDICE, ENNIO

المساهمون: Leu, C, de Kovel, Cg, Zara, F, Striano, P, Pezzella, M, Robbiano, A, Bianchi, A, Bisulli, F, Coppola, A, Giallonardo, At, Beccaria, F, Trenité, Dk, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Yg, Becker, F, Lerche, H, Kleefuss Lie, Aa, Hallman, K, Kunz, W, Elger, Ce, Muhle, H, Stephani, U, Møller, R, Hjalgrim, H, Mullen, S, Scheffer, Ie, Berkovic, Sf, Everett, Kv, Gardiner, Mr, Marini, C, Guerrini, R, Lehesjoki, Ae, Siren, A, Nabbout, R, Baulac, S, Leguern, E, Serratosa, Jm, Rosenow, F, Feucht, M, Unterberger, I, Covanis, A, Suls, A, Weckhuysen, S, Kaneva, R, Caglayan, H, Turkdogan, D, Baykan, B, Bebek, N, Ozbek, U, Hempelmann, A, Schulz, H, Rüschendorf, F, Trucks, H, Nürnberg, P, Avanzini, G, Koeleman, Bp, Sander, T, Epicure, Consortium, DEL GIUDICE, Ennio, Coppola, Antonietta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::15117f4c4d3cc1fe0762bf7bffa234ee
http://hdl.handle.net/11588/465935

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Volker-Touw CM; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., de Koning HD; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Kempen TS; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., Oberndorff KM; Department of Pediatrics, Atrium-Orbis Medical Centre, Sittard, the Netherlands., Boes ML; Department of Pediatric Immunology, Laboratory of Translational Immunology (LTI), University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Steensel MA; Division of Cancer Research, School of Medicine, University of Dundee, Dundee, U.K.; Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.; Institute of Medical Biology, Singapore., van Well GT; Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands., Blokx WA; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., Schalkwijk J; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands., Simon A; Department of General Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Frenkel J; Department of Pediatrics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Gijn ME; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.

المصدر: The British journal of dermatology [Br J Dermatol] 2017 Jan; Vol. 176 (1), pp. 244-248. Date of Electronic Publication: 2016 Dec 08.

نوع المنشور: Letter

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: CARD Signaling Adaptor Proteins/*genetics , Calcium-Binding Proteins/*genetics , Erythema/*genetics , Hereditary Autoinflammatory Diseases/*genetics, Age of Onset ; Aged ; Aged, 80 and over ; Arthralgia/drug therapy ; Arthralgia/genetics ; Cytokines/metabolism ; Enterocolitis/drug therapy ; Enterocolitis/genetics ; Exanthema/drug therapy ; Exanthema/genetics ; Female ; Hereditary Autoinflammatory Diseases/drug therapy ; Humans ; Interleukin 1 Receptor Antagonist Protein/therapeutic use ; Male ; Middle Aged ; Pedigree ; Phenotype ; Urticaria/drug therapy ; Urticaria/genetics

المؤلفون: de Lange IM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Weckhuysen S; Epilepsy Unit, Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpital de la Pitié Salpêtrière, Centre de reference épilepsies rares, Paris, France.; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Velinov M; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Albert Einstein College of Medicine, Bronx, New York, USA., Dolzhanskaya N; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Albert Einstein College of Medicine, Bronx, New York, USA., Marsh E; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Devinsky O; NYU Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, New York, USA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., van Paesschen W; Department of Neurology, UZ Leuven, Leuven, Belgium., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Kempen M; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Minassian BA; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Nezarati MM; Genetics Program, North York General Hospital and Prenatal Diagnosis & Medical Genetics, Mt. Sinai Hospital, Toronto, Canada., Pessoa A; University of Fortaleza, Fortaleza, Brazil., Jacquette A; Service de génétique, GHU Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France., Maher B; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Balestrini S; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Sisodiya S; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Warde MT; Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France., De St Martin A; Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France., Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van 't Slot R; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koeleman BP; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

مؤلفون مشاركون: EuroEPINOMICS-RES MAE working group

المصدر: Journal of medical genetics [J Med Genet] 2016 Dec; Vol. 53 (12), pp. 850-858. Date of Electronic Publication: 2016 Jun 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Mosaicism* , X Chromosome Inactivation*, Drug Resistant Epilepsy/*metabolism , Intellectual Disability/*metabolism , Nerve Tissue Proteins/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, X ; Codon, Nonsense ; Drug Resistant Epilepsy/genetics ; Female ; Genes, X-Linked ; Heterozygote ; Humans ; Intellectual Disability/genetics ; Middle Aged ; Syndrome

المؤلفون: de Kovel CG; Department of Genetics UMC Utrecht Utrecht The Netherlands., Brilstra EH; Department of Genetics UMC Utrecht Utrecht The Netherlands., van Kempen MJ; Department of Genetics UMC Utrecht Utrecht The Netherlands., Van't Slot R; Department of Genetics UMC Utrecht Utrecht The Netherlands., Nijman IJ; Department of Genetics UMC Utrecht Utrecht The Netherlands., Afawi Z; Tel Aviv Sourasky Medical Center6 Weizmann St.Tel AvivIsrael; Genetics of Epilepsy Research in Israel Tel-Aviv University Medical SchoolTel-AvivIsrael., De Jonghe P; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; Division of NeurologyAntwerp University HospitalAntwerpBelgium., Djémié T; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Guerrini R; Neuroscience Department Children's Hospital Anna Meyer University of Florence Florence Italy., Hardies K; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Helbig I; Division of NeurologyThe Children's Hospital of PhiladelphiaPhiladephiaPennsylvania; Department of NeuropediatricsUniversity Medical Center Schleswig-HolsteinChristian Albrechts UniversityKielGermany., Hendrickx R; Neurogenetics Group Department of Molecular Genetics VIB Antwerp Belgium., Kanaan M; Pediatric Epilepsy Unit Tel Aviv Sourasky Medical Center Tel Aviv University Tel Aviv Israel., Kramer U; Department of Life Sciences Bethlehem University Bethlehem Palestine., Lehesjoki AE; Folkhälsan Institute of Genetics Neuroscience Center and Research Programs Unit Molecular Neurology University of Helsinki Helsinki Finland., Lemke JR; Institute of Human Genetics University of Leipzig Hospitals and Clinics Leipzig Germany., Marini C; Neuroscience Department Children's Hospital Anna Meyer University of Florence Florence Italy., Mei D; Neuroscience Department Children's Hospital Anna Meyer University of Florence Florence Italy., Møller RS; Danish Epilepsy Centre - FiladelfiaDianalundDenmark; Institute for Regional Health ServicesUniversity of Southern DenmarkDK-5230OdenseDenmark., Pendziwiat M; Department of Neuropediatrics University Medical Center Schleswig-Holstein Christian Albrechts University Kiel Germany., Stamberger H; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Suls A; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Weckhuysen S; Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Koeleman BP; Department of Genetics UMC Utrecht Utrecht The Netherlands.

مؤلفون مشاركون: EuroEPINOMICS RES Consortium

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2016 Jul 30; Vol. 4 (5), pp. 568-80. Date of Electronic Publication: 2016 Jul 30 (Print Publication: 2016).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: eCollection Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE

المؤلفون: Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S

المصدر: Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2171-8. Date of Electronic Publication: 2016 May 06.

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

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Nerve Tissue Proteins/*genetics , Nerve Tissue Proteins/*metabolism , Receptors, N-Methyl-D-Aspartate/*genetics , Receptors, N-Methyl-D-Aspartate/*metabolism, Animals ; Cohort Studies ; Consanguinity ; Heterozygote ; Homozygote ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Movement Disorders/genetics ; Movement Disorders/metabolism ; Oocytes ; Phenotype ; Seizures/genetics ; Seizures/metabolism ; Xenopus laevis

المؤلفون: Djémié T; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium., Weckhuysen S; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Centre de reference épilepsies raresEpilepsy unit, AP-HP Groupe hospitalier Pitié-SalpêtrièreParis75013France., von Spiczak S; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany., Carvill GL; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA., Jaehn J; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany., Anttonen AK; Folkhälsan Institute of GeneticsHelsinkiFinland; Medical and Clinical GeneticsUniversity of HelsinkiHelsinkiFinland; Helsinki University HospitalHelsinkiFinland., Brilstra E; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands., Caglayan HS; Department of Molecular Biology and Genetics Bogaziçi University Istanbul Turkey., de Kovel CG; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands., Depienne C; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France., Gaily E; Department of Pediatric Neurology Helsinki University Hospital Helsinki Finland., Gennaro E; Laboratory of Genetics E.O. Ospedali Galliera Genova Italy., Giraldez BG; Neurology Laboratory and Epilepsy UnitDepartment of NeurologyInstituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de MadridMadridSpain; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)MadridSpain., Gormley P; Psychiatric and Neurodevelopmental Genetics UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMassachusetts02114USA; Program in Medical and Population GeneticsBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Stanley Center for Psychiatric ResearchBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Wellcome Trust Sanger InstituteHinxtonUnited Kingdom., Guerrero-López R; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain., Guerrini R; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy., Hämäläinen E; Wellcome Trust Sanger InstituteHinxtonUnited Kingdom; Institute for Molecular Medicine Finland FIMMUniversity of HelsinkiHelsinkiFinland., Hartmann C; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany., Hernandez-Hernandez L; Department of Clinical and Experimental EpilepsyNIHR University College London Hospitals Biomedical Research CentreUCL Institute of NeurologyLondonUnited Kingdom; The Epilepsy SocietyChalfont-St-PeterBucksUnited Kingdom., Hjalgrim H; Department of NeurologyDanish Epilepsy CentreDianalundDenmark; Institute for Regional Health researchUniversity of Southern DenmarkOdenseDenmark., Koeleman BP; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands., Leguern E; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France., Lehesjoki AE; Folkhälsan Institute of GeneticsHelsinkiFinland; Research Programs UnitMolecular NeurologyUniversity of HelsinkiHelsinkiFinland., Lemke JR; Institute of Human Genetics University of Leipzig Leipzig Germany., Leu C; Department of Clinical and Experimental Epilepsy NIHR University College London Hospitals Biomedical Research Centre UCL Institute of Neurology London United Kingdom., Marini C; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy., McMahon JM; Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia., Mei D; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy., Møller RS; Department of NeurologyDanish Epilepsy CentreDianalundDenmark; Institute for Regional Health researchUniversity of Southern DenmarkOdenseDenmark., Muhle H; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany., Myers CT; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA., Nava C; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France., Serratosa JM; Neurology Laboratory and Epilepsy UnitDepartment of NeurologyInstituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de MadridMadridSpain; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)MadridSpain., Sisodiya SM; Department of Clinical and Experimental EpilepsyNIHR University College London Hospitals Biomedical Research CentreUCL Institute of NeurologyLondonUnited Kingdom; The Epilepsy SocietyChalfont-St-PeterBucksUnited Kingdom., Stephani U; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany., Striano P; Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences Rehabilitation Ophthalmology Genetics and Maternal and Child Health University of Genoa 'G. Gaslini' Institute Genova Italy., van Kempen MJ; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands., Verbeek NE; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands., Usluer S; Department of Molecular Biology and Genetics Bogaziçi University Istanbul Turkey., Zara F; Laboratory of Neurogenetics Department of Neurosciences Giannina Gaslini Institute Genova Italy., Palotie A; Program in Medical and Population GeneticsBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Institute for Molecular Medicine Finland FIMMUniversity of HelsinkiHelsinkiFinland., Mefford HC; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA., Scheffer IE; Epilepsy Research CentreDepartment of MedicineUniversity of MelbourneAustin HealthMelbourneAustralia; Department of PaediatricsUniversity of Melbourne and Royal Children's HospitalParkvilleVictoria3052Australia; Florey Institute of Neuroscience and Mental HealthMelbourneVictoria3084Australia., De Jonghe P; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; Division of NeurologyAntwerp University HospitalAntwerpBelgium., Helbig I; Department of NeuropediatricsUniversity Medical Center Schleswig-HolsteinKielGermany; Division of NeurologyChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUSA., Suls A; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; GENOMEDCenter for Medical GeneticsUniversity of AntwerpAntwerpBelgium.

مؤلفون مشاركون: EuroEPINOMICS‐RES Dravet working group

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2016 Apr 14; Vol. 4 (4), pp. 457-64. Date of Electronic Publication: 2016 Apr 14 (Print Publication: 2016).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: eCollection Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE

المؤلفون: de Kovel CG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mulder F; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Setten J; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van 't Slot R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Al-Rubaish A; Department of Medicine, King Fahd Hospital of the University, University of Dammam, Dammam, Kingdom of Saudi Arabia., Alshehri AM; Department of Medicine, King Fahd Hospital of the University, University of Dammam, Dammam, Kingdom of Saudi Arabia., Al Faraidy K; Department of Cardiology, King Fahd Military Medical Complex, Al-Khobar, Kingdom of Saudi Arabia., Al-Ali A; Prince Sultan Cardiac Center, Al-Ahssa, Kingdom of Saudi Arabia., Al-Madan M; King Fahd Hospital of the University, University of Dammam, Dammam, Kingdom of Saudi Arabia., Al Aqaili I; Department of Medicine, Qatif Central Hospital, Qatif, Kingdom of Saudi Arabia., Larbi E; Department of Medicine, King Fahd Hospital of the University, University of Dammam, Dammam, Kingdom of Saudi Arabia., Al-Ali R; Department of Medicine, King Fahd Hospital of the University, University of Dammam, Dammam, Kingdom of Saudi Arabia., Alzahrani A; College of Applied Medical Sciences, King Saud University, Riyadh, Kingdom of Saudi Arabia., Asselbergs FW; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht, The Netherlands., Koeleman BP; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Al-Ali A; Prince Mohammed Center for Research & Consultation Studies, College of Medicine, University of Dammam, Dammam, Kingdom of Saudi Arabia.

المصدر: PloS one [PLoS One] 2016 Feb 05; Vol. 11 (2), pp. e0146502. Date of Electronic Publication: 2016 Feb 05 (Print Publication: 2016).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Genome-Wide Association Study*, Coronary Artery Disease/*epidemiology , Coronary Artery Disease/*genetics, Adolescent ; Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Analysis of Variance ; Female ; Genetic Predisposition to Disease ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Inheritance Patterns ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Quantitative Trait, Heritable ; Risk Factors ; Saudi Arabia/epidemiology ; Young Adult