المؤلفون: Poduri, A, Heinzen, EL, Chitsazzadeh, V, Lasorsa, FM, Elhosary, PC, LaCoursiere, CM, Martin, E, Yuskaitis, CJ, Hill, RS, Atabay, KD, Barry, B, Partlow, JN, Bashiri, FA, Zeidan, RM, Elmalik, SA, Kabiraj, MMU, Kothare, S, Stodberg, T, McTague, A, Kurian, MA, Scheffer, IE, Barkovich, AJ, Palmieri, F, Salih, MA, Walsh, CA

المصدر: Annals of neurology. 74(6):873-882

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:128106978

المؤلفون: Sánchez Fernández B, Amengual-Gual M, Gaínza-Lein M, Barcia Aguilar C, Bergin AM, Yuskaitis CJ, Harini C

المصدر: Epilepsia
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: meta-analysis, outcome research, cost-effectiveness, decision analysis, infantile spasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6096b0591cba57177b80f51aa5251692
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18621

المؤلفون: Hadjinicolaou A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Briscoe Abath C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Singh A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Donatelli S; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Salussolia CL; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Cohen AL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., He J; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Gupta N; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Merchant S; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Olson H; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Libenson MH; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Harini C; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

المصدر: Epilepsia [Epilepsia] 2024 Apr; Vol. 65 (4), pp. 984-994. Date of Electronic Publication: 2024 Feb 05.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Spasms, Infantile*/diagnosis , Spasms, Infantile*/drug therapy, Humans ; Infant ; Retrospective Studies ; Age of Onset ; Syndrome ; Electroencephalography ; Seizures ; Spasm

المؤلفون: Abath CB; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Gupta N; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Hadjinicolaou A; Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Donatelli S; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Singh A; Department of Neurology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Merchant S; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Ryan ME; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Soby M; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Ryan C; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Nelson AK; Tulane University School of Public Health and Tropical Medicine, New Orleans, Louisiana, USA., Maldonado Pacheco JE; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Zhang B; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Williams DN; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Yuskaitis CJ; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA., Harini C; Department of Neurology, Comprehensive Epilepsy Program, Division of Epilepsy, Boston Children's Hospital, Boston, Massachusetts, USA.

المصدر: Epilepsia [Epilepsia] 2024 Jan; Vol. 65 (1), pp. 107-114. Date of Electronic Publication: 2023 Dec 07.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Epilepsy*/diagnosis , Spasms, Infantile*/therapy , Spasms, Infantile*/drug therapy, Humans ; Child ; United States ; Retrospective Studies ; Prospective Studies ; Ethnicity ; Syndrome ; Spasm

المؤلفون: Koh HY; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Smith L; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Wiltrout KN; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Podury A; Harvard Medical School, Boston, Massachusetts., Chourasia N; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics and Neurology, University of Tennessee Health Science Center, Memphis., D'Gama AM; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts., Park M; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Knight D; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Sexton EL; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Koh JJ; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Oby B; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Pinsky R; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts., Shao DD; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., French CE; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts., Shao W; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts., Rockowitz S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts., Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts.; Division of Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts., Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, Massachusetts., Mahida S; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Moufawad El Achkar C; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, Massachusetts., Yuskaitis CJ; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Olson HE; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Sheidley BR; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Poduri AH; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

مؤلفون مشاركون: BCH Neurology Referral and Phenotyping Group

المصدر: JAMA network open [JAMA Netw Open] 2023 Jul 03; Vol. 6 (7), pp. e2324380. Date of Electronic Publication: 2023 Jul 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/epidemiology , Epilepsy*/diagnosis , Epilepsy*/genetics, Male ; Female ; Humans ; Cohort Studies ; Exome Sequencing ; Seizures

المؤلفون: Harini C; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Singh A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., McHugh T; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Liu S; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., DeLeo M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Gupta N; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Marti C; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhang B; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Libenson MH; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Berry JG; Complex Care, Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

المصدر: Epilepsia open [Epilepsia Open] 2023 Jun; Vol. 8 (2), pp. 444-455. Date of Electronic Publication: 2023 Mar 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

مواضيع طبية MeSH: Patient Readmission* , Epilepsy*, Male ; Humans ; Child ; Female ; Retrospective Studies ; Cohort Studies ; Syndrome ; Spasm

المؤلفون: Abath CB; Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, USA., Chandra Saha N; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Hoque SA; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Islam A; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Chowdhury YS; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Ara Begum MS; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Davalji Kanjiker TS; Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, USA., Yuskaitis CJ; Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, USA., Harini C; Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, USA., Alam MB; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Mohammed QD; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh., Mazumdar M; Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Agargaon, Dhaka, 1207, Bangladesh.

المصدر: Heliyon [Heliyon] 2023 Mar 05; Vol. 9 (3), pp. e14323. Date of Electronic Publication: 2023 Mar 05 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

المؤلفون: van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Cornips MC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Ahimaz P; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Bellanger SA; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Caylor RC; Greenwood Genetic Center, Greenwood, SC., Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., van Essen TAJ; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy., Javier MM; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lai A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program and Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Lev D; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Lewis MES; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Lichty A; Greenwood Genetic Center, Greenwood, SC., Mannens MMAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maya I; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France., Michaud V; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Miele E; Department of Pediatric Hematology and Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Onesimo R; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Prijoles E; Greenwood Genetic Center, Greenwood, SC., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Redon S; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rouault K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Schieving J; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy., Uguen K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA., Yosovich K; Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, Israel., Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA., Zampino G; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. Electronic address: sadikovic@lhsc.on.ca., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Electronic address: m.alders@amsterdamumc.nl., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.oegema@umcutrecht.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 49-62. Date of Electronic Publication: 2022 Nov 01.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Intellectual Disability*/genetics, Mice ; Animals ; Humans ; DNA Methylation/genetics ; DNA ; Mutation

المؤلفون: Yuskaitis CJ; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI. christopher.yuskaitis@childrens.harvard.edu., Mytinger JR; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Baumer FM; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Zhang B; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Liu S; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Samanta D; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Hussain SA; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Yozawitz EG; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Keator CG; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Joshi C; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Singh RK; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Bhatia S; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Bhalla S; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Shellhaas R; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI., Harini C; From the Division of Epilepsy and Clinical Neurophysiology (C.J.Y., C.H.), Department of Neurology, Boston Children's Hospital, MA; Department of Pediatrics (J.R.M.), Division of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus; Division of Child Neurology (F.M.B.), Department of Neurology, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and ICCTR Biostatistics and Research Design Center (B.Z., S.L.), Boston Children's Hospital and Harvard Medical School, MA; Division of Child Neurology (D.S.), Department of Pediatrics, University of Arkansas for Medical Sciences, AR; Department of Pediatrics (S.A.H.), Division of Neurology, University of California, Los Angeles; Department of Neurology (E.G.Y.), Montefiore Medical Center, Bronx, NY; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Departments of Pediatrics and Neurology (C.J.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Department of Pediatrics (R.K.S.), Division of Neurology, Atrium Health/Levine Children's, Charlotte, NC; Division of Pediatric Neurology (S. Bhatia), Department of Pediatrics, Medical University of South Carolina, Charleston; Department of Pediatrics (S. Bhalla), Division of Child Neurology, Emory University School of Medicine, Children's Healthcare of Atlanta, GA; and Department of Pediatrics (R.S.), Michigan Medicine, University of Michigan, Ann Arbor, MI.

مؤلفون مشاركون: Pediatric Epilepsy Research Consortium

المصدر: Neurology [Neurology] 2022 Nov 29; Vol. 99 (22), pp. e2494-e2503. Date of Electronic Publication: 2022 Aug 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Spasms, Infantile*/drug therapy, Humans ; Infant ; Adrenocorticotropic Hormone/therapeutic use ; Anticonvulsants/therapeutic use ; Cognition ; Electroencephalography ; Treatment Outcome ; Vigabatrin/therapeutic use

المؤلفون: Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., El Achkar CM; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Barkovich AJ; Department of Radiology, University of California, San Francisco, CA., Cao Y; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., DiStefano M; Broad Institute of MIT and Harvard, Cambridge, MA; Precision Health Program, Geisinger, Danville, PA., Evenson M; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, Meyer Children's University Hospital, University of Florence, Florence, Italy., Knight D; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Lee YS; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Hospital, Memphis, TN., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA., Mochida G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Patel M; Broad Institute of MIT and Harvard, Cambridge, MA., Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Spencer S; Division of Reproductive Genetics, Northwestern Medicine, Chicago, IL., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Yuskaitis CJ; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: timothy.yu@childrens.harvard.edu., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@childrens.harvard.edu.

مؤلفون مشاركون: ClinGen Brain Malformation Variant Curation Expert Panel

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2240-2248. Date of Electronic Publication: 2022 Aug 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/pathology , Congenital Abnormalities*/genetics , Genetic Variation*/genetics , Genome, Human*, Humans ; Class I Phosphatidylinositol 3-Kinases/genetics ; Genetic Testing ; Mutation ; Phosphatidylinositol 3-Kinases ; Proto-Oncogene Proteins c-akt/genetics ; TOR Serine-Threonine Kinases/genetics