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Pitfalls in genetic testing: the story of missed SCN1A mutations.

Autor: 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.

Publikováno v: 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).