Elena Parrini University of Florence Biography Publications Institution JoVE Articles Elena Parrini has not added a biography. If you are Elena Parrini and would like to personalize this page please email our Author Liaison for assistance. Publications Delineating SPTAN1 Associated Phenotypes: from Isolated Epilepsy to Encephalopathy with Progressive Brain Atrophy Brain : a Journal of Neurology. Sep, 2017 | Pubmed ID: 29050398 GNAO1 Encephalopathy: Broadening the Phenotype and Evaluating Treatment and Outcome Neurology. Genetics. Apr, 2017 | Pubmed ID: 28357411 Clinical and Genetic Factors Predicting Dravet Syndrome in Infants with SCN1A Mutations Neurology. Mar, 2017 | Pubmed ID: 28202706 The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients Molecular Diagnosis & Therapy. Aug, 2017 | Pubmed ID: 28197949 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes Human Mutation. Feb, 2017 | Pubmed ID: 27864847 Genetic Basis of Brain Malformations Molecular Syndromology. Sep, 2016 | Pubmed ID: 27781032 The Syndrome of Polymicrogyria, Thalamic Hypoplasia, and Epilepsy with CSWS Neurology. Mar, 2016 | Pubmed ID: 26944271 Characterisation of Mutations of the Phosphoinositide-3-kinase Regulatory Subunit, PIK3R2, in Perisylvian Polymicrogyria: a Next-generation Sequencing Study The Lancet. Neurology. Dec, 2015 | Pubmed ID: 26520804 Familial Periventricular Nodular Heterotopia, Epilepsy and Melnick-Needles Syndrome Caused by a Single FLNA Mutation with Combined Gain-of-function and Loss-of-function Effects Journal of Medical Genetics. Jun, 2015 | Pubmed ID: 25755106 Periventricular Heterotopia in 6q Terminal Deletion Syndrome: Role of the C6orf70 Gene Brain : a Journal of Neurology. Nov, 2013 | Pubmed ID: 24056535 Neuronal Migration Disorders Neurobiology of Disease. May, 2010 | Pubmed ID: 19245832 Новые стратегии, сочетающей массив CGH, всего exome последовательности и в утробе матери электропорации грызунов для выявления причинных генов для пороки развития головного мозга Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neurosciences
Новые стратегии, сочетающей массив CGH, всего exome последовательности и в утробе матери электропорации грызунов для выявления причинных генов для пороки развития головного мозга Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neurosciences