Novel Mutations Consolidate KCTD7 As a Progressive Myoclonus Epilepsy Gene
Europe PMC Funders Group Author Manuscript J Med Genet. Author manuscript; available in PMC 2013 September 16. Published in final edited form as: J Med Genet. 2012 June ; 49(6): 391–399. doi:10.1136/jmedgenet-2012-100859. Europe PMC Funders Author Manuscripts Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene Maria Kousi1,2, Verneri Anttila3,4, Angela Schulz5, Stella Calafato3, Eveliina Jakkula4, Erik Riesch6, Liisa Myllykangas1,7, Hannu Kalimo7, Meral Topcu8, Sarenur Gokben9, Fusun Alehan10, Johannes R Lemke11, Michael Alber12, Aarno Palotie3,4,13,14, Outi Kopra1,2, and Anna-Elina Lehesjoki1,2 1Folkhälsan Institute of Genetics, Finland 2Haartman Institute, Department of Medical Genetics and Research Program’s Unit, Molecular Medicine, and Neuroscience Center, University of Helsinki, Finland 3Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK 4Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland 5Children’s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany 6CeGaT GmbH, Tübingen, Germany 7Department of Pathology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland 8Department of Pediatrics, Hacettepe University Faculty of Medicine, Section of Child Neurology, Ankara, Turkey 9Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey 10Baskent University Faculty of Medicine Division of Child Neurology, Baskent, Turkey 11University Children’s Hospital, Inselspital, Bern, Switzerland 12Department
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