ArticleMedComm2024
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
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Article in MedComm, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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0cells of the map it votes in
4citing papers in PubMed
2.2field-weighted citation impact, top 13% of its field
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
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- A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.MedComm · 2024Article
Corrections and comments
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Authors and funding
24 authors at 13 institutions in 5 countries.
Santasree BanerjeeDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Qiang ZhaoDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Bo WangDepartment of Pediatrics Shenzhen Second People's Hospital The First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China.
Jiale QinDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Xin YuanDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Ziwei LouDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Weizeng ZhengDepartment of Radiology Women's Hospital Zhejiang University School of Medicine Hangzhou China.
Huanguo LiDepartment of Radiology Hangzhou Hospital of Traditional Chinese Medicine Hangzhou China.
Xiaojun WangDepartment of Neurobiology, Department of Rehabilitation and Department of Internal Medicine of the Children's Hospital, Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou China.
Xiawei ChengSchool of Pharmacy East China University of Science and Technology Shanghai China.
Yu ZhuDepartment of Neurobiology, Department of Rehabilitation and Department of Internal Medicine of the Children's Hospital, Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou China.
Fan LinDepartment of Cell Biology School of Basic Medical Sciences Nanjing Medical University Nanjing China.
Fan YangDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Junyu XuDepartment of Neurobiology, Department of Rehabilitation and Department of Internal Medicine of the Children's Hospital, Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou China.
Anjana MunshiDepartment of Human Genetics and Molecular Medicine Central University of Punjab Bathinda India.
Parimal DasCentre for Genetic Disorders Banaras Hindu University Varanasi India.
Yuanfeng ZhouDepartment of Neurology and Epilepsy Center Children's Hospital of Fudan University Shanghai China.
Kausik MandalDepartment of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow Uttar Pradesh India.
Yi WangDepartment of Neurology and Epilepsy Center Children's Hospital of Fudan University Shanghai China.
Muhammad AyubDepartment of Psychiatry University College London London UK.
Nobutaka HirokawaDepartment of Cell Biology and Anatomy Graduate School of Medicine The University of Tokyo Tokyo Japan.
Yongmei XiDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.
Guangfu ChenDepartment of Pediatrics Shenzhen Second People's Hospital The First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China.
Chen LiDepartment of Human Genetics and Department of Ultrasound, Women's Hospital School of Basic Medical Science Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorders Zhejiang University School of Medicine Hangzhou China.ORCID https://orcid.org/0000-0002-8014-6848
Women's Hospital, School of Medicine, Zhejiang University · CNChildren's Hospital of Zhejiang University · CNChildren's Hospital of Fudan University · CNShenzhen University Health Science Center · CNBanaras Hindu University · INCentral University of Punjab · INEast China University of Science and Technology · CNHangzhou Hospital of Traditional Chinese Medicine · CNNanjing Medical University · CNSanjay Gandhi Post Graduate Institute of Medical Sciences · INThe University of Tokyo · JPUniversity College London · GBUniversity of Delhi · IN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Motor proteins, encoded by Kinesin superfamily (
Indexed as
cargo traffickingDrosophila modelinfantile‐onset epilepsyin‐frame deletionKinesinpsychomotor retardation
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.