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 organization: Department of Medical and Clinical Genetics
Neuroscience Center
Medicum
Clinicum
Children's Hospital
Lastenneurologian yksikkö
Institute for Molecular Medicine Finland
University of Helsinki
Research Programs Unit
Anna-Elina Lehesjoki / Principal Investigator
Research Programme for Molecular Neurology
Aarno Palotie / Principal Investigator
HUS Children and Adolescents
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2016
Language: eng
Number of pages: 8
Belongs to series: Molecular Genetics & Genomic Medicine
ISSN: 2324-9269
DOI: https://doi.org/10.1002/mgg3.217
URI: http://hdl.handle.net/10138/174550
Subject: 3111 Biomedicine
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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