换一批Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
第一作者：
Dianalee,McKnight
第一单位：
Invitae, San Francisco, California.
作者：
Dianalee,McKnight [1]
;
Ana,Morales [1]
;
Kathryn E,Hatchell [1]
;
Sara L,Bristow [1]
;
Joshua L,Bonkowsky [2]
;
Michael Scott,Perry [3]
;
Anne T,Berg [4]
;
Felippe,Borlot [5]
;
Edward D,Esplin [1]
;
Chad,Moretz [1]
;
Katie,Angione [6]
;
Loreto,Ríos-Pohl [7]
;
Robert L,Nussbaum [1]
;
Swaroop,Aradhya [1]
;
ELEVIATE Consortium [8]
;
Chad R,Haldeman-Englert [9]
;
Rebecca J,Levy [10]
;
Venu G,Parachuri [11]
;
Guillermo,Lay-Son [12]
;
David J Dávila-Ortiz,de Montellano [12]
;
Miguel Angel,Ramirez-Garcia [12]
;
Edmar O,Benítez Alonso [13]
;
Julie,Ziobro [14]
;
Adela,Chirita-Emandi [15]
;
Temis M,Felix [16]
;
Dianne,Kulasa-Luke [17]
;
Andre,Megarbane [18]
;
Shefali,Karkare [19]
;
Sarah L,Chagnon [20]
;
Jennifer B,Humberson [21]
;
Melissa J,Assaf [22]
;
Sebastian,Silva [23]
;
Katherine,Zarroli [24]
;
Oksana,Boyarchuk [25]
;
Gary R,Nelson [25]
;
Rachel,Palmquist [26]
;
Katherine C,Hammond [27]
;
Sean T,Hwang [28]
;
Susan B,Boutlier [29]
;
Melinda,Nolan [30]
;
Kaitlin Y,Batley [31]
;
Devraj,Chavda [32]
;
Carlos Alberto,Reyes-Silva [33]
;
Oleksandr,Miroshnikov [34]
;
Britton,Zuccarelli [35]
;
Louise,Amlie-Wolf [36]
;
James W,Wheless [37]
;
Syndi,Seinfeld [38]
;
Manoj,Kanhangad [39]
;
Jeremy L,Freeman [40]
;
Susana,Monroy-Santoyo [41]
;
Natalia,Rodriguez-Vazquez [42]
;
Monique M,Ryan [30]
;
Michelle,Machie [43]
;
Patricio,Guerra [44]
;
Muhammad Jawad,Hassan [25]
;
Meghan S,Candee [45]
;
Caleb P,Bupp [46]
;
Kristen L,Park [47]
;
Eric,Muller [48]
;
Pamela,Lupo [49]
;
Robert C,Pedersen [50]
;
Amir M,Arain [51]
;
Andrea,Murphy [52]
;
Krista,Schatz [52]
;
Weiyi,Mu [53]
;
Paige M,Kalika [54]
;
Lautaro,Plaza [55]
;
Marissa A,Kellogg [56]
;
Evelyn G,Lora [57]
;
Robert P,Carson [58]
;
Victoria,Svystilnyk [59]
;
Viviana,Venegas [3]
;
Rebecca R,Luke [60]
;
Huiyuan,Jiang [61]
;
Tetiana,Stetsenko [62]
;
Milagros M,Dueñas-Roque [63]
;
Joseph,Trasmonte [64]
;
Rebecca J,Burke [65]
;
Anna C E,Hurst [66]
;
Douglas M,Smith [67]
;
Lauren J,Massingham [68]
;
Laura,Pisani [69]
;
Carrie E,Costin [25]
;
Betsy,Ostrander [25]
;
Francis M,Filloux [26]
;
Amitha L,Ananth [26]
;
Ismail S,Mohamed [70]
;
Alla,Nechai [71]
;
Jasmin M,Dao [38]
;
Michael C,Fahey [72]
;
Ermal,Aliu [73]
;
Stephen,Falchek [46]
;
Craig A,Press [46]
;
Lauren,Treat [46]
;
Krista,Eschbach [46]
;
Angela,Starks [46]
;
Ryan,Kammeyer [46]
;
Joshua J,Bear [46]
;
Mona,Jacobson [74]
;
Veronika,Chernuha [75]
;
Bailey,Meibos [25]
;
Kristen,Wong [25]
;
Matthew T,Sweney [25]
;
A Chris,Espinoza [25]
;
Colin B,Van Orman [76]
;
Arie,Weinstock [77]
;
Ashutosh,Kumar [78]
;
Claudia,Soler-Alfonso [79]
;
Danielle A,Nolan [80]
;
Muhammad,Raza [81]
;
Miguel David,Rojas Carrion [82]
;
Geetha,Chari [83]
;
Eric D,Marsh [84]
;
Yael,Shiloh-Malawsky [85]
;
Sumit,Parikh [86]
;
Ernesto,Gonzalez-Giraldo [36]
;
Stephen,Fulton [87]
;
Yoshimi,Sogawa [88]
;
Kaitlyn,Burns [89]
;
Myroslava,Malets [90]
;
Johnny David,Montiel Blanco [52]
;
Christa W,Habela [25]
;
Carey A,Wilson [91]
;
Guillermo G,Guzmán [92]
;
Mariia,Pavliuk
作者单位：
Invitae, San Francisco, California.
[1]
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.;Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah.
[2]
Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas.
[3]
Department of Neurology, Northwestern University-Feinberg School of Medicine, Chicago, Illinois.;COMBINEDBrain, Brentwood, Tennessee.
[4]
Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.;Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
[5]
Children's Hospital Colorado, Aurora.;Department of Pediatrics, University of Colorado School of Medicine, Aurora.
[6]
Clinical Integral de Epilepsia, Facultad de Medicina, Universidad Finis Terrae, Santiago, Chile.
[7]
Mission Fullerton Genetics Center, Asheville, North Carolina.
[8]
Division of Medical Genetics, Lucile Packard Children's Hospital at Stanford University, Stanford, California.;Division of Child Neurology, Lucile Packard Children's Hospital at Stanford University, Stanford, California.
[9]
Kaiser Permanente, Portland, Oregon.
[10]
Genetic Unit, Pediatrics Division, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
[11]
Genetics Department, National Institute of Neurology and Neurosurgery, "Manuel Velasco Suárez," Mexico City, Mexico.
[12]
Department of Pediatrics, University of Michigan, Ann Arbor.
[13]
Genetic Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy "Victor Babes" Timisoara, Timis, Romania.;Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu" Timisoara, Timis, Romania.
[14]
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
[15]
NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, Ohio.
[16]
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.;Institut Jerome Lejeune, Paris, France.
[17]
Cohen Children's Medical Center, Queens, New York.
[18]
Children's Hospital of the King's Daughters, Norfolk, Virginia.
[19]
University of Virginia Pediatric Genetics and Metabolism, Charlottesville, Virginia.
[20]
Banner Children's Neurology-Thunderbird, Glendale, Arizona.
[21]
Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile.
[22]
University of Florida-Jacksonville, Jacksonville.
[23]
I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.
[24]
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
[25]
Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham.
[26]
Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.
[27]
ECU Physician Internal Medicine Pediatric Neurology, Greenville, North Carolina.
[28]
Starship Child Health, Auckland, New Zealand.
[29]
Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas.
[30]
SUNY Downstate Health Sciences University, Brooklyn, New York.
[31]
Facultad de Ciencias de la Salud, Universidad de los Hemisferios, Quito, Ecuador.
[32]
Institute of Pediatrics, Obstetrics and Gynecology, Kyiv, Ukraine.
[33]
University of Kansas School of Medicine-Salina, Salina.
[34]
Nemours Children's Hospital, Wilmington, Delaware.
[35]
Pediatric Neurology, University of Tennessee Health Science Center, Memphis.;Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee.
[36]
Joe DiMaggio Children's Hospital, Hollywood, Florida.
[37]
Department of Paediatrics, Monash University, Clayton, Australia.
[38]
The Royal Children's Hospital Melbourne, Melbourne, Australia.
[39]
Instituto Nacional de Pediatria/Centro Medico ABC, Mexico City, Mexico.
[40]
University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico.
[41]
The Royal Children's Hospital Melbourne, Melbourne, Australia.;Murdoch Children's Research Institute, Melbourne, Australia.;University of Melbourne, Melbourne, Australia.
[42]
Universidad San Sebastián, Department of Pediatrics, Medicine School, Patagonia Campus, Puerto Montt, Chile.
[43]
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
[44]
Spectrum Health, West Michigan Helen DeVos Children's Hospital, Grand Rapids, Michigan.
[45]
Children's Hospital Colorado, Aurora.;Department of Pediatrics, University of Colorado School of Medicine, Aurora.;Department of Neurology, University of Colorado School of Medicine, Aurora.
[46]
Clinical Genetics, Stanford Children's Health Specialty Services, San Francisco, California.
[47]
Division of Neurology, Department of Pediatrics, University of Texas Medical Branch, League City.
[48]
Hawaii Permanente Medical Group, Honolulu.
[49]
Division of Epilepsy, Department of Neurology, University of Utah School of Medicine, Salt Lake City.
[50]
Mary Bird Perkins Cancer Center, Baton Rouge, Louisiana.
[51]
Johns Hopkins University, Baltimore, Maryland.
[52]
University of Miami, Miami, Florida.
[53]
Hospital Materno Perinatal "Mónica Pretelini Sáenz," Toluca, México.
[54]
Oregon Health & Science University, Portland.
[55]
Dominican Neurological and Neurosurgical Society, Santo Domingo, Dominican Republic.
[56]
Vanderbilt University Medical Center, Nashville, Tennessee.
[57]
Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.
[58]
Clínica Alemana de Santiago, Universidad del Desarrollo, Pediatric Neurology Unit, Santiago, Chile.
[59]
Nationwide Children's Hospital, Toledo, Ohio.
[60]
Brain Stimulation Center, Kyiv, Ukraine.
[61]
Hospital Nacional Edgardo Rebagliati Martins-EsSalud, Lima, Perú.
[62]
Atrium Health Navicent, Macon, Georgia.
[63]
Division of Medical Genetics, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.;Division of Neonatology, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.
[64]
Department of Genetics, University of Alabama at Birmingham, Birmingham.
[65]
Minnesota Epilepsy Group, St Paul.
[66]
Hasbro Children's Hospital, Providence, Rhode Island.;Alpert Medical School, Brown University, Providence, Rhode Island.
[67]
Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.;Northwell Health, Medical Genetics, Great Neck, New York.
[68]
Genetic Center, Akron Children's Hospital, Akron, Ohio.
[69]
Neurology Department, Kiev City Children Clinical Hospital No. 1, Kyiv City, Ukraine.
[70]
Adult and Child Neurology Medical Associates, Long Beach, California.;Miller Children's Hospital, Long Beach, California.
[71]
Department of Genetics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
[72]
Nemours Children's Hospital, Wilmington, Delaware.;Thomas Jefferson University, Philadelphia, Pennsylvania.
[73]
Pediatric Neurology Institute, "Dana-Dwek" Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
[74]
University of Utah, Salt Lake City.
[75]
Division of Child Neurology, Department of Neurology, University at Buffalo, Buffalo, New York.;Oishei Children's Hospital, Buffalo, New York.
[76]
Department of Pediatrics and Neurology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
[77]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
[78]
Pediatric Epilepsy, Beaumont Children's, Royal Oak, Michigan.
[79]
Nishtar Medical University, Multan, Punjab, Pakistan.
[80]
Alejandro Mann Hospital Complex, Guayaquil, Ecuador.
[81]
SUNY Downstate Health Sciences University, Brooklyn, New York.;Kings County Hospital Center, Brooklyn, New York.
[82]
Division of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.;University of Pennsylvania Perelman School of Medicine, Philadelphia.
[83]
University of North Carolina at Chapel Hill, Chapel Hill.
[84]
Neurogenetics, Cleveland Clinic, Cleveland, Ohio.
[85]
University of California-San Francisco, San Francisco.
[86]
UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
[87]
Sanford Health, Sioux Falls, South Dakota.
[88]
Uzhhorod National University, Uzhhorod, Ukraine.
[89]
National Institute of Child Health, Lima, Perú.
[90]
Servicio Neuropsiquiatria Infantil, Hospital San Borja Arriarán, Santiago, Chile.
[91]
Volyn Regional Hospital, Lutsk, Ukraine.
[92]
医学主题词
人类(Humans);女(雌)性(Female);婴儿, 新生(Infant, Newborn);婴儿(Infant);儿童, 学龄前(Child, Preschool);儿童(Child);青少年(Adolescent);青年人(Young Adult);成年人(Adult);中年人(Middle Aged);男(雄)性(Male);回顾性研究(Retrospective Studies);横断面研究(Cross-Sectional Studies);基因检测(Genetic Testing);癫痫(Epilepsy);发作(Seizures)
DOI
10.1001/jamaneurol.2022.3651
PMID
36315135
发布时间
2023-04-12
- 浏览2
JAMA neurology
JAMA neurology
2022年79卷12期
1267-1276页
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