A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

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第一作者： Shiva,Ganesan

第一单位： Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.

作者： Shiva,Ganesan ^[1] ; Peter D,Galer ^[1] ; Katherine L,Helbig ^[1] ; Sarah E,McKeown ^[2] ; Margaret,O'Brien ^[3] ; Alexander K,Gonzalez ^[4] ; Alex S,Felmeister ^[5] ; Pouya,Khankhanian ^[6] ; Colin A,Ellis ^[7] ; Ingo,Helbig ^[8]

作者单位： Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[1] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[2] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[3] The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[4] Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[5] Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. ^[6] The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. ^[7] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. helbigi@email.chop.edu.;The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA. helbigi@email.chop.edu.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. helbigi@email.chop.edu.;Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. helbigi@email.chop.edu. ^[8]

关键词 Human Phenotype Ontology childhood epilepsy electronic medical records neurogenetics

主题词儿童(Child);电子健康病历(Electronic Health Records);癫痫(Epilepsy);人类(Humans);表型(Phenotype);痉挛, 婴儿(Spasms, Infantile)

DOI 10.1038/s41436-020-0923-1

PMID 32773773

发布时间 2022-02-10

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