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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
Affiliation:1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan;2. Department of Pediatrics, National Hospital Organization Nishi-Niigata Chuo National Hospital, Niigata 950-2085, Japan;3. Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan;4. The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel;5. Department of Biochemistry, Tokyo Women’s Medical University, Tokyo 162-8666, Japan;6. Department of Molecular Pharmacology and Neurobiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan;7. Department of Pediatric Neurology Unit, Pediatric Institute, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia;8. Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia;9. Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan;10. Reserch Center for Biochemistry and Food Technology, National Research Institute of Fisheries Science, Yokohama 236-8648, Japan;11. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan
Abstract:
Keywords:developmental and epileptic encephalopathy (DEE)  progressive myoclonic epilepsy  semaphorin  SEMA6B  nonsense-mediated mRNA decay (NMD)  zebrafish  genome editing  CRISPR-Cas9
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