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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

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第一作者: Ana,Fernández-Marmiesse
第一单位: Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain.;Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain.
作者单位: Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain.;Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain. [1] Molecular Genetics Unit, Clinical University Hospital of Canarias, Santa Cruz de Tenerife, Spain. [2] Neuropediatrics Unit, Niño Jesús Clinical University Hospital, Madrid, Spain. [3] Neuropediatrics Unit, Marqués de Valdecilla Clinical University Hospital, Santander, Spain. [4] Genetics Unit, Marqués de Valdecilla Clinical University Hospital, Santander, Spain. [5] Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Do Porto, Porto, Portugal. [6] Neuropediatrics Unit, Santa María Hospital, Lisbon, Portugal. [7] Genetics Unit, Santa María Hospital, Lisbon, Portugal. [8] Neuropediatrics Unit, Teresa Herrera Child's Hospital, A Coruña, Spain. [9] Clinical Genetics Unit, Teresa Herrera Child's Hospital, A Coruña, Spain. [10] Neuropediatrics Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain. [11] Neuropediatrics Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain.;Department of Medicine, Complutense University of Madrid, Madrid, Spain. [12] Metabolic Disorders Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain. [13] Neuropediatrics Unit, Virgen de la Arrixaca Clinical University Hospital, Murcia, Spain. [14] Genetics Unit, Clinical University Hospital of Málaga, Málaga, Spain. [15] Neuropediatrics Unit, Clinical University Hospital of Málaga, Málaga, Spain. [16] Neuropediatrics Unit, Clinical University Hospital Severo Ochoa, Leganés, Madrid, Spain. [17] Clinical Genetics Unit, Pediatrics, Clinical University Hospital of Zaragoza, Zaragoza, Spain. [18] Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain. [19] Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain.;Molecular Genetics Unit, Clinical University Hospital of Canarias, Santa Cruz de Tenerife, Spain.;Molecular Genetics Unit, Virgen de las Nieves Clinical University Hospital, Granada, Spain. [20]
DOI 10.3389/fnins.2019.01135
PMID 31780880
发布时间 2020-10-01
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