A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family

Epilepsy Research - Tập 113 - Trang 5-10 - 2015
Feyza Nur Tuncer1, Zeliha Görmez2, Mustafa Çalık3, Güneş Altıokka Uzun4, Mahmut Şamil Sağıroğlu2, Betül Yücetürk2, Bayram Yüksel5, Betül Baykan4, Nerses Bebek4, Akın İşcan6, Sı̇bel Aylı̇n Uğur İşerı̇1, Uğur Özbek1
1Istanbul University, Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
2The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Advanced Genomics and Bioinformatics Research Center, Kocaeli, Turkey
3Harran University Faculty of Medicine, Department of Pediatric Neurology, Sanliurfa, Turkey
4Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Clinical Neurophysiology Unit, Istanbul, Turkey
5The Scientific and Technological Research Council of Turkey (TUBITAK-MAM), Genetic Engineering and Biotechnology Institute, Kocaeli, Turkey
6Bezmialem Vakıf University Faculty of Medicine, Department of Pediatric Neurology, İstanbul, Turkey

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Tài liệu tham khảo

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