Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.-论文-万方医学网

作者： Sali M K,Farhan ^[1] ; Kevin C J,Nixon ^[2] ; Michelle,Everest ^[3] ; Tara N,Edwards ^[1] ; Shirley,Long ^[3] ; Dmitri,Segal ^[3] ; Maria J,Knip ^[3] ; Heleen H,Arts ^[3] ; Rana,Chakrabarti ^[3] ; Jian,Wang ^[1] ; John F,Robinson ^[4] ; Donald,Lee ^[5] ; Seyed M,Mirsattari ^[4] ; C Anthony,Rupar ^[6] ; Victoria M,Siu ^[1] ; FORGE Canada Consortium ^[1] ; Michael O,Poulter ^[7] ; Robert A,Hegele ^[3] ; Jamie M,Kramer ^[8]

作者单位： Molecular Medicine Research Group, Robarts Research Institute, London, ON, Canada, N6A 5B7. ^[1] Department of Biochemistry. ^[2] Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1. ^[3] Division of Genetics and Development, Children's Health Research Institute, London, ON, Canada, N6A 5W9. ^[4] Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre Nijmegen, The Netherlands. ^[5] Department of Pediatrics. ^[6] Department of Medical Imaging. ^[7] Departments of Clinical Neurological Sciences, Medical Biophysics, Medical Imaging and Psychology. ^[8] Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1. ^[9] Department of Biology, Faculty of Science, Western University, London, ON, Canada, N6A 5B7. ^[10]

主题词成年人(Adult);动物(Animals);脑(Brain);载体蛋白质类(Carrier Proteins);大脑皮质(Cerebral Cortex);黑腹果蝇(Drosophila melanogaster);癫痫(Epilepsy);女(雌)性(Female);基因敲低技术(Gene Knockdown Techniques);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);神经系统畸形(Nervous System Malformations);神经元(Neurons);系谱(Pedigree);脑室旁小结异位(Periventricular Nodular Heterotopia);突触前末梢(Presynaptic Terminals);大鼠(Rats);发作(Seizures);突触(Synapses)

DOI 10.1093/hmg/ddx316

PMID 28973161

发布时间 2022-12-07

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Human molecular genetics

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Human molecular genetics

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Human molecular genetics

相似文献

Human molecular genetics

相关期刊

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