المؤلفون: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R

المصدر: Brain : a journal of neurology. 142(11)

مصطلحات موضوعية: Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

URL الوصول: https://escholarship.org/uc/item/3hj2q3k2

المؤلفون: Teunissen MWA; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands., Lewerissa E; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Wang S; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Marcelis CLM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Brilstra E; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands., Howe JL; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada., Le Guillou X; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Laboratory of Experimental and Clinical Neurosciences University of Poitiers, INSERM U1084, Poitiers 86000, France., Primiano M; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA., Roohi J; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Clinical Genetics, Kaiser Permanente Mid-Atlantic Permanente Medical Group, Rockville, MD 20852, USA., Piton A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôspitaux Universitaire de Strasbourg, Strasbourg, BP 426 67091, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France., de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Baer S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany., Platzer K; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Doering JH; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Lakhani S; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA., Nangia S; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Vermeulen RJ; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands., Brunner HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, MD 6299, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2373-2385.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Axon Initial Segment*/metabolism , Induced Pluripotent Stem Cells* , Epilepsy*/genetics , Epilepsy*/metabolism, Humans ; Ankyrins/genetics ; Ankyrins/metabolism ; Neurons/metabolism

المؤلفون: Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Neuroscience Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Biology, The College of New Jersey, Ewing Township, NJ 08618, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Fitch E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gan J; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China., Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Kaufman MC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE2 4HH, UK.; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK., Galer P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Center for Neuroengineering and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA., Cunningham K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., O'Brien M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Darling A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Veiga de Goes F; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Doering JH; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Furia F; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., García-Cazorla Á; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Geertjens L; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Klein C; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Lammertse H; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Lee J; Department of Pediatrics, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea., Mackie A; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Misra-Isrie M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Olson H; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sexton E; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sotero L; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., Stamberger H; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Syrbe S; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Thalwitzer KM; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., van Berkel A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Yuskaitis C; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Weckhuysen S; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Prosser B; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Son Rigby C; STXBP1 Foundation, Apex, NC 27539, USA., Demarest S; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Pierce S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zhang Y; Department of Pediatrics, Beijing University First Hospital, Beijing, China., Møller RS; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Bruining H; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Verhage M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

المصدر: Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1668-1683.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Spasms, Infantile*/drug therapy , Spasms, Infantile*/genetics, Electroencephalography ; Humans ; Infant ; Munc18 Proteins/genetics ; Retrospective Studies ; Seizures/genetics

المؤلفون: Le Duc D; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.; MIND Institute, University of California Davis, Sacramento, CA, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA., Napoli E; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA., Panoutsopoulos A; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA., Harlan De Crescenzo A; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany., Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany., Anagnostou E; Bloorview Research Institute, University of Toronto, Toronto, Canada., Azage M; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA., Bend R; Greenwood Genetic Center, Greenwood, SC, USA., Begtrup A; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Brown NJ; Department of Pediatrics, University of Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia., Büttner B; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Cho MT; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA., Doering JH; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, Rennes, F-35033, France.; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, F-35000, France., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Hildebrand MS; Department of Pediatrics, University of Melbourne, VIC, Australia.; Epilepsy Research Centre, Austin Health, Heidelberg, VIC, Australia., Santos FJR; Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Kellam B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Keller-Ramey J; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Lemke JR; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Liu S; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Niyazov D; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA., Payne K; Riley Hospital for Children, Indianapolis, IN, USA., Person R; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Quélin C; Service de Génétique Clinique, CHU, Rennes, F-35203, France., Schnur RE; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Smith BT; Greenwood Genetic Center, Greenwood, SC, USA., Strober J; UCSF Benioff Children's Hospital, San Francisco, CA, USA., Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Wallis M; Austin Health Clinical Genetics Service, Heidelberg, VIC, Australia.; Department of Medicine, University of Melbourne, Parkville, VIC, Australia., Walsh L; Riley Hospital for Children, Indianapolis, IN, USA., Yang S; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA., Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Ziegler A; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany., Sticht H; Institute of Biochemistry, Emil-Fischer-Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Pride MC; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA., Orosco L; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA., Martínez-Cerdeño V; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA., Silverman JL; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA., Crawley JN; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada., Zarbalis KS; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA., Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

المصدر: Brain : a journal of neurology [Brain] 2019 Sep 01; Vol. 142 (9), pp. 2617-2630.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Adaptor Proteins, Signal Transducing/*genetics , Autophagy-Related Proteins/*genetics , Brain/*embryology , Brain/*pathology , Genetic Variation/*genetics , Neurodevelopmental Disorders/*genetics , Neurodevelopmental Disorders/*pathology, Adaptor Proteins, Signal Transducing/chemistry ; Adolescent ; Animals ; Autophagy-Related Proteins/chemistry ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mice ; Mice, Transgenic ; Organ Size ; Protein Structure, Secondary

المؤلفون: Reuner G; University Children's Hospital Heidelberg, Section Neuropediatrics and Inborn Errors of Metabolism, Heidelberg, Germany. Electronic address: gitta.reuner@med.uni-heidelberg.de., Kadish NE; University Children's Hospital Heidelberg, Section Neuropediatrics and Inborn Errors of Metabolism, Heidelberg, Germany; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany; Department of Medical Psychology and Medical Sociology, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Doering JH; University Children's Hospital Heidelberg, Section Neuropediatrics and Inborn Errors of Metabolism, Heidelberg, Germany., Balke D; University Children's Hospital Heidelberg, Section Neuropediatrics and Inborn Errors of Metabolism, Heidelberg, Germany., Schubert-Bast S; University Children's Hospital Heidelberg, Section Neuropediatrics and Inborn Errors of Metabolism, Heidelberg, Germany; Department of Pediatric Neurology, Goethe University Hospital, Frankfurt, Germany.

المصدر: Epilepsy & behavior : E&B [Epilepsy Behav] 2016 Jul; Vol. 60, pp. 42-49. Date of Electronic Publication: 2016 May 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

مواضيع طبية MeSH: Attention* , Executive Function*, Epilepsy/*psychology, Adolescent ; Age of Onset ; Anticonvulsants/therapeutic use ; Child ; Chronic Disease ; Cognition ; Cognition Disorders/etiology ; Cognition Disorders/psychology ; Epilepsy/complications ; Epilepsy/drug therapy ; Female ; Humans ; Longitudinal Studies ; Male ; Neuropsychological Tests ; Prospective Studies ; Psychomotor Performance

المؤلفون: Doering JH; Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany. Electronic address: jan.doering@med.uni-heidelberg.de., Reuner G, Kadish NE, Pietz J, Schubert-Bast S

المصدر: Epilepsy & behavior : E&B [Epilepsy Behav] 2013 Oct; Vol. 29 (1), pp. 41-6. Date of Electronic Publication: 2013 Aug 07.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

مواضيع طبية MeSH: Patient Acceptance of Health Care*, Complementary Therapies/*methods , Complementary Therapies/*statistics & numerical data , Epilepsy/*therapy, Analysis of Variance ; Child ; Complementary Therapies/economics ; Cross-Sectional Studies ; Epilepsy/epidemiology ; Epilepsy/psychology ; Female ; Health Surveys ; Humans ; Male ; Pediatrics ; Predictive Value of Tests ; Quality of Life ; Retrospective Studies ; Sex Factors ; Surveys and Questionnaires ; Time Factors