The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Autorzy:
Poskanzer SA; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA. Thies J; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA. Collins CJ; Seattle Children's Research Institute, Seattle, WA, USA. MyersCT; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA. Dayuha R; Seattle Children's Research Institute, Seattle, WA, USA. Duong P; Seattle Children's Research Institute, Seattle, WA, USA. Yi F; Seattle Children's Research Institute, Seattle, WA, USA. Chang IJ; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA. Ochs HD; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA. Torgerson TR; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA. Hahn SH; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Autorzy:
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. MyersCT; 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.
MyersCT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA. Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA. .
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Źródło:
Genome medicine [Genome Med] 2015 Aug 25; Vol. 7, pp. 91. Date of Electronic Publication: 2015 Aug 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
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