Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.-论文-万方医学网

作者： Hiroki,Mutoh ^[1] ; Mitsuhiro,Kato ^[2] ; Tenpei,Akita ^[1] ; Takuma,Shibata ^[3] ; Hiroyuki,Wakamoto ^[4] ; Hiroko,Ikeda ^[5] ; Hiroki,Kitaura ^[6] ; Kazushi,Aoto ^[7] ; Mitsuko,Nakashima ^[7] ; Tianying,Wang ^[1] ; Chihiro,Ohba ^[8] ; Satoko,Miyatake ^[8] ; Noriko,Miyake ^[8] ; Akiyoshi,Kakita ^[6] ; Kensuke,Miyake ^[3] ; Atsuo,Fukuda ^[1] ; Naomichi,Matsumoto ^[9] ; Hirotomo,Saitsu ^[10]

作者单位： Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. ^[1] Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan. ^[2] Division of Infectious Genetics, Department of Microbiology and Immunology, University of Tokyo, Tokyo 108-8639, Japan. ^[3] Department of Pediatrics, Ehime Rehabilitation Center for Children, Ehime 791-0212, Japan. ^[4] Department of Pediatrics, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, National Hospital Organization, Shizuoka 420-8688, Japan. ^[5] Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan. ^[6] Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. ^[7] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. ^[8] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp. ^[9] Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. Electronic address: hsaitsu@hama-med.ac.jp. ^[10]

主题词青少年(Adolescent);氨基酸序列(Amino Acid Sequence);动物(Animals);儿童(Child);近亲(Consanguinity);脑电描记术(Electroencephalography);内质网(Endoplasmic Reticulum);家庭(Family);女(雌)性(Female);基因表达(Gene Expression);杂合子(Heterozygote);海马(Hippocampus);人类(Humans);婴儿(Infant);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);分子伴侣(Molecular Chaperones);突变(Mutation);发作(Seizures);序列比对(Sequence Alignment);序列同源性, 氨基酸(Sequence Homology, Amino Acid);同胞(Siblings);痉挛, 婴儿(Spasms, Infantile)

DOI 10.1016/j.ajhg.2018.01.004

PMID 29394991

发布时间 2020-08-24

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

American journal of human genetics

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American journal of human genetics

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

American journal of human genetics

相似文献

American journal of human genetics

相关期刊

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