Pitfalls in genetic testing: the story of missed SCN1A mutations

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Djémié , T , Weckhuysen , S , von Spiczak , S , Carvill , G L , Jaehn , J , Anttonen , A-K , Brilstra , E , Caglayan , H S , de Kovel , C G , Depienne , C , Gaily , E , Gennaro , E , Giraldez , B G , Gormley , P , Guerrero-López , R , Guerrini , R , Hämäläinen , E , Hartmann , C , Hernandez-Hernandez , L , Hjalgrim , H , Koeleman , B P C , Leguern , E , Lehesjoki , A-E , Lemke , J R , Leu , C , Marini , C , McMahon , J M , Mei , D , Møller , R S , Myers , C T , Nava , C , Serratosa , J M , Sisodiya , S M , Stephani , U , Striano , P , van Kempen , M J A , Verbeek , N E , Usluer , S , Zara , F , Palotie , A , Meffiord , H C , Scheffer , I E , De Jonghe , P , Helbig , I , Suls , A & EuroEPINOMICS-RES Dravet working group 2016 , ' Pitfalls in genetic testing: the story of missed SCN1A mutations ' , Molecular Genetics & Genomic Medicine , vol. 4 , no. 4 , pp. 457-464 . https://doi.org/10.1002/mgg3.217

Title: Pitfalls in genetic testing: the story of missed SCN1A mutations
Author: Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L.; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S.; de Kovel, Carolien G.; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G.; Gormley, Padraigh; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby P.C.; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Leu, Costin; Marini, Carla; McMahon, Jacinta M.; Mei, Davide; Møller, Rikke S.; Myers, Candace T.; Nava, Caroline; Serratosa, José M; Sisodiya, Sanjay M.; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan J.A.; Verbeek, Nienke E.; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Meffiord, Heather C.; Scheffer, Ingrid E.; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid; EuroEPINOMICS-RES Dravet working group
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Clinicum
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Research Programs Unit
University of Helsinki, Institute for Molecular Medicine Finland
Date: 2016
Language: eng
Number of pages: 8
Belongs to series: Molecular Genetics & Genomic Medicine
ISSN: 2324-9269
URI: http://hdl.handle.net/10138/174550
Subject: 3111 Biomedicine
3112 Neurosciences
3124 Neurology and psychiatry
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