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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

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Title: CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Authors: Demarest ST; Children's Hospital Colorado, Aurora, Colorado.; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatrics, Colorado School of Public Health, Aurora, Colorado.; Department of Neurology, Colorado School of Public Health, Aurora, Colorado., Olson HE; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Moss A; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado., Pestana-Knight E; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Department of Neurology, Lerner Research Institute, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio., Zhang X; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Department of Neurology, Lerner Research Institute, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio., Parikh S; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.; Department of Neurogenetics, Lerner Research Institute, Cleveland, Ohio., Swanson LC; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Riley KD; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Bazin GA; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Angione K; Children's Hospital Colorado, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado., Niestroj LM; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Lal D; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Cleveland Clinic Children's, Cleveland, Ohio.; Stanley Center for Psychiatric Research, Cambridge, Massachusetts.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Juarez-Colunga E; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado.; Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado., Benke TA; Children's Hospital Colorado, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatrics, Colorado School of Public Health, Aurora, Colorado.; Department of Neurology, Colorado School of Public Health, Aurora, Colorado.; Department of Pharmacology, Colorado School of Public Health, Aurora, Colorado.; Department of Otolaryngology, Colorado School of Public Health, Aurora, Colorado.
Source: Epilepsia [Epilepsia] 2019 Aug; Vol. 60 (8), pp. 1733-1742. Date of Electronic Publication: 2019 Jul 16.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
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  Data: <searchLink fieldCode="AU" term="%22Demarest+ST%22">Demarest ST</searchLink>; Children's Hospital Colorado, Aurora, Colorado.; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatrics, Colorado School of Public Health, Aurora, Colorado.; Department of Neurology, Colorado School of Public Health, Aurora, Colorado.<br /><searchLink fieldCode="AU" term="%22Olson+HE%22">Olson HE</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Moss+A%22">Moss A</searchLink>; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado.<br /><searchLink fieldCode="AU" term="%22Pestana-Knight+E%22">Pestana-Knight E</searchLink>; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Department of Neurology, Lerner Research Institute, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Department of Neurology, Lerner Research Institute, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.<br /><searchLink fieldCode="AU" term="%22Parikh+S%22">Parikh S</searchLink>; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.; Department of Neurogenetics, Lerner Research Institute, Cleveland, Ohio.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Riley+KD%22">Riley KD</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Bazin+GA%22">Bazin GA</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Angione+K%22">Angione K</searchLink>; Children's Hospital Colorado, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado.<br /><searchLink fieldCode="AU" term="%22Niestroj+LM%22">Niestroj LM</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Lal+D%22">Lal D</searchLink>; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland, Ohio.; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Cleveland Clinic Children's, Cleveland, Ohio.; Stanley Center for Psychiatric Research, Cambridge, Massachusetts.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Juarez-Colunga+E%22">Juarez-Colunga E</searchLink>; Adult and Child Consortium for Health Outcomes Research and Delivery Science, Aurora, Colorado.; Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado.<br /><searchLink fieldCode="AU" term="%22Benke+TA%22">Benke TA</searchLink>; Children's Hospital Colorado, Aurora, Colorado.; University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatrics, Colorado School of Public Health, Aurora, Colorado.; Department of Neurology, Colorado School of Public Health, Aurora, Colorado.; Department of Pharmacology, Colorado School of Public Health, Aurora, Colorado.; Department of Otolaryngology, Colorado School of Public Health, Aurora, Colorado.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2019 Aug; Vol. 60 (8), pp. 1733-1742. <i>Date of Electronic Publication: </i>2019 Jul 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE
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