Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16129
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dc.contributor.authorDjémié, Tania-
dc.contributor.authorWeckhuysen, Sarah-
dc.contributor.authorvon Spiczak, Sarah-
dc.contributor.authorCarvill, Gemma L-
dc.contributor.authorJaehn, Johanna-
dc.contributor.authorAnttonen, Anna-Kaisa-
dc.contributor.authorBrilstra, Eva-
dc.contributor.authorCaglayan, Hande S-
dc.contributor.authorde Kovel, Carolien G-
dc.contributor.authorDepienne, Christel-
dc.contributor.authorGaily, Eija-
dc.contributor.authorGennaro, Elena-
dc.contributor.authorGiraldez, Beatriz G-
dc.contributor.authorGormley, Padhraig-
dc.contributor.authorGuerrero-López, Rosa-
dc.contributor.authorGuerrini, Renzo-
dc.contributor.authorHämäläinen, Eija-
dc.contributor.authorHartmann, Corinna-
dc.contributor.authorHernandez-Hernandez, Laura-
dc.contributor.authorHjalgrim, Helle-
dc.contributor.authorKoeleman, Bobby PC-
dc.contributor.authorLeguern, Eric-
dc.contributor.authorLehesjoki, Anna-Elina-
dc.contributor.authorLemke, Johannes-
dc.contributor.authorLeu, Costin-
dc.contributor.authorMarini, Carla-
dc.contributor.authorMcMahon, Jacinta M-
dc.contributor.authorMei, Davide-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorMuhle, Hiltrud-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorNava, Caroline-
dc.contributor.authorSerratosa, Jose M-
dc.contributor.authorSisodiya, Sanjay M-
dc.contributor.authorStephani, Ulrich-
dc.contributor.authorStriano, Pasquale-
dc.contributor.authorvan Kempen, Marjan JA-
dc.contributor.authorVerbeek, Nienke E-
dc.contributor.authorUsluer, Sunay-
dc.contributor.authorZara, Federico-
dc.contributor.authorPalotie, Aarno-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorDe Jonghe, Peter-
dc.contributor.authorHelbig, Ingo-
dc.contributor.authorSuls, Arvid-
dc.contributor.authorEuroEPINOMICS‐RES Dravet working group-
dc.date2016-04-
dc.date.accessioned2016-08-15T23:30:58Z-
dc.date.available2016-08-15T23:30:58Z-
dc.date.issued2016-07-
dc.identifier.citationMolecular Genetics & Genomic Medicine 2016; 14(4):457-464en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/16129-
dc.description.abstractBACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.en_US
dc.subjectDravet syndromeen_US
dc.subjectSanger sequencingen_US
dc.subjectEpilepsyen_US
dc.subjectGenetic screeningen_US
dc.subjectNext‐generation sequencingen_US
dc.titlePitfalls in genetic testing: the story of missed SCN1A mutationsen_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleMolecular Genetics & Genomic Medicineen_US
dc.identifier.affiliationAustin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationNeurogenetics group, Department of Molecular Genetics, VIB, Antwerp, Belgiumen_US
dc.identifier.affiliationLaboratory of Neurogenetics Institute, Born-Bunge, University of Antwerp, Antwerp, Belgiumen_US
dc.identifier.affiliationSorbonne universités, UPMC université Paris, Paris, Franceen_US
dc.identifier.affiliationICM, CNRS UMR 7225, Inserm U 1127, Paris, Franceen_US
dc.identifier.affiliationCentre de reference épilepsies rares, Epilepsy unit, AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, Franceen_US
dc.identifier.affiliationDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germanyen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen_US
dc.identifier.affiliationMedical and Clinical Genetics, University of Helsinki, Helsinki, Finlanden_US
dc.identifier.affiliationHelsinki University Hospital, Helsinki, Finlanden_US
dc.identifier.affiliationDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.identifier.affiliationDepartment of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkeyen_US
dc.identifier.affiliationDépartement de génétique, AP-HP, hôpital Pitié-Salpêtrière, Paris, Franceen_US
dc.identifier.affiliationDepartment of Pediatric Neurology, Helsinki University Hospital, Helsinki, Finlanden_US
dc.identifier.affiliationLaboratory of Genetics, E.O. Ospedali Galliera, Genova, Italyen_US
dc.identifier.affiliationNeurology Laboratory and Epilepsy Unit, Department of Neurology, Instituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spainen_US
dc.identifier.affiliationIIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spainen_US
dc.identifier.affiliationPsychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USAen_US
dc.identifier.affiliationProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USAen_US
dc.identifier.affiliationStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USAen_US
dc.identifier.affiliationWellcome Trust Sanger Institute, Hinxton, UKen_US
dc.identifier.affiliationPediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italyen_US
dc.identifier.affiliationInstitute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finlanden_US
dc.identifier.affiliationDepartment of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UKen_US
dc.identifier.affiliationThe Epilepsy Society, Chalfont-St-Peter, Bucks, UKen_US
dc.identifier.affiliationDepartment of Neurology, Danish Epilepsy Centre, Dianalund, Denmarken_US
dc.identifier.affiliationInstitute for Regional Health research, University of Southern Denmark, Odense, Denmarken_US
dc.identifier.affiliationFolkhälsan Institute of Genetics, Helsinki, Finlanden_US
dc.identifier.affiliationResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finlanden_US
dc.identifier.affiliationInstitute of Human Genetics, University of Leipzig, Leipzig, Germanyen_US
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa ‘G. Gaslini’ Institute, Genova, Italyen_US
dc.identifier.affiliationLaboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova, Italyen_US
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, Victoria, Australiaen_US
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDivision of Neurology, Antwerp University Hospital, Antwerp, Belgiumen_US
dc.identifier.affiliationDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USAen_US
dc.identifier.affiliationGENOMED, Center for Medical Genetics, University of Antwerp, Antwerp, Belgiumen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/27465585en_US
dc.identifier.doi10.1002/mgg3.217en_US
dc.type.contentTexten_US
dc.type.austinJournal Articleen_US
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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