Renzo Guerrini University of Florence Biography Publications Institution JoVE Articles Renzo Guerrini has not added a biography. If you are Renzo Guerrini 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 Defective Mitochondrial RRNA Methyltransferase MRM2 Causes MELAS-like Clinical Syndrome Human Molecular Genetics. Nov, 2017 | Pubmed ID: 28973171 Hemicerebellitis Can Drive Handedness Shift Cerebellum & Ataxias. 2017 | Pubmed ID: 28919980 GNAO1 Encephalopathy: Broadening the Phenotype and Evaluating Treatment and Outcome Neurology. Genetics. Apr, 2017 | Pubmed ID: 28357411 Recessive Mutations in SLC35A3 Cause Early Onset Epileptic Encephalopathy with Skeletal Defects American Journal of Medical Genetics. Part A. Apr, 2017 | Pubmed ID: 28328131 Safety and Efficacy of Topiramate in Neonates with Hypoxic Ischemic Encephalopathy Treated with Hypothermia (NeoNATI): a Feasibility Study The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. Mar, 2017 | Pubmed ID: 28274169 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 Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy Cerebellum (London, England). Jun, 2017 | Pubmed ID: 28091863 Multimodal Fiber-probe Spectroscopy Allows Detecting Epileptogenic Focal Cortical Dysplasia in Children Journal of Biophotonics. Jun, 2017 | Pubmed ID: 28067998 Mycophenolate Mofetil As Induction and Long-term Maintaining Treatment in Childhood: Primary Angiitis of the Central Nervous System Joint, Bone, Spine : Revue Du Rhumatisme. May, 2017 | Pubmed ID: 28034820 Age-related Differences in Audiovisual Interactions of Semantically Different Stimuli Developmental Psychology. 01, 2017 | Pubmed ID: 27893235 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 Isolated Recurrent Myelitis in a 7-year-old Child with Serum Aquaporin-4 IgG Antibodies Journal of Neurology. Jan, 2017 | Pubmed ID: 27844163 Germline and Somatic Mutations in the MTOR Gene in Focal Cortical Dysplasia and Epilepsy Neurology. Genetics. Dec, 2016 | Pubmed ID: 27830187 Epilepsy in Ring Chromosome 20 Syndrome Epilepsy Research. Dec, 2016 | Pubmed ID: 27816898 Genetic Basis of Brain Malformations Molecular Syndromology. Sep, 2016 | Pubmed ID: 27781032 Double-target Antisense U1snRNAs Correct Mis-splicing Due to C.639+861C>T and C.639+919G>A GLA Deep Intronic Mutations Molecular Therapy. Nucleic Acids. Oct, 2016 | Pubmed ID: 27779620 PIK3CA-associated Developmental Disorders Exhibit Distinct Classes of Mutations with Variable Expression and Tissue Distribution JCI Insight. 06, 2016 | Pubmed ID: 27631024 Identity by Descent Fine Mapping of Familial Adult Myoclonus Epilepsy (FAME) to 2p11.2-2q11.2 Human Genetics. Oct, 2016 | Pubmed ID: 27368338 Dravet Syndrome: Not Just Epilepsy Neurology. Jul, 2016 | Pubmed ID: 27316245 Efficacy of Ketamine in Refractory Convulsive Status Epilepticus in Children: a Protocol for a Sequential Design, Multicentre, Randomised, Controlled, Open-label, Non-profit Trial (KETASER01) BMJ Open. Jun, 2016 | Pubmed ID: 27311915 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism JAMA Neurology. Jul, 2016 | Pubmed ID: 27159400 The Syndrome of Polymicrogyria, Thalamic Hypoplasia, and Epilepsy with CSWS Neurology. Mar, 2016 | Pubmed ID: 26944271 Effectiveness of Antiepileptic Therapy in Patients with PCDH19 Mutations Seizure. Feb, 2016 | Pubmed ID: 26820223 Pitfalls in the Detection of Gross Gene Rearrangements Using MLPA in Fabry Disease Clinica Chimica Acta; International Journal of Clinical Chemistry. Jan, 2016 | Pubmed ID: 26528637 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 Antiepileptic Drug Treatment in Children with Epilepsy CNS Drugs. 2015 | Pubmed ID: 26400189 Ketamine in Refractory Convulsive Status Epilepticus in Children Avoids Endotracheal Intubation Epilepsy & Behavior : E&B. Aug, 2015 | Pubmed ID: 26189786 Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis PloS One. 2015 | Pubmed ID: 26176859 Mitochondrial Respiratory Chain Defects in Skin Fibroblasts from Patients with Dravet Syndrome Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. Nov, 2015 | Pubmed ID: 26169758 Dysgraphia As a Mild Expression of Dystonia in Children with Absence Epilepsy PloS One. 2015 | Pubmed ID: 26132164 Mutations of Protocadherin 19 in Female Epilepsy (PCDH19-FE) Lead to Allopregnanolone Deficiency Human Molecular Genetics. Sep, 2015 | Pubmed ID: 26123493 A Prospective Study of Direct Medical Costs in a Large Cohort of Consecutively Enrolled Patients with Refractory Epilepsy in Italy Epilepsia. Jul, 2015 | Pubmed ID: 26046371 A Versatile Clearing Agent for Multi-modal Brain Imaging Scientific Reports. May, 2015 | Pubmed ID: 25950610 Malformations of Cortical Development and Epilepsy Cold Spring Harbor Perspectives in Medicine. May, 2015 | Pubmed ID: 25934463 Early and Effective Treatment of KCNQ2 Encephalopathy Epilepsia. May, 2015 | Pubmed ID: 25880994 Biotinidase Deficiency Due to a De Novo Mutation or Gonadal Mosaicism in a First Child Clinica Chimica Acta; International Journal of Clinical Chemistry. May, 2015 | Pubmed ID: 25795614 Intra-individual Plasticity of the TAZ Gene Leading to Different Heritable Mutations in Siblings with Barth Syndrome European Journal of Human Genetics : EJHG. Dec, 2015 | Pubmed ID: 25782672 Therapeutic Drug Monitoring of Carbamazepine and Its Metabolite in Children from Dried Blood Spots Using Liquid Chromatography and Tandem Mass Spectrometry Journal of Pharmaceutical and Biomedical Analysis. May, 2015 | Pubmed ID: 25770414 Nocturnal Frontal Lobe Epilepsy with Paroxysmal Arousals Due to CHRNA2 Loss of Function Neurology. Apr, 2015 | Pubmed ID: 25770198 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 A Novel Inherited SCN1A Mutation Associated with Different Neuropsychological Phenotypes: is There a Common Core Deficit? Epilepsy & Behavior : E&B. Feb, 2015 | Pubmed ID: 25569746 Dried Blood Spot Assay for the Quantification of Phenytoin Using Liquid Chromatography-Mass Spectrometry Clinica Chimica Acta; International Journal of Clinical Chemistry. Feb, 2015 | Pubmed ID: 25447695 Late-onset Epileptic Spasms: Clinical Evidence and Outcome in 34 Patients Journal of Child Neurology. Feb, 2015 | Pubmed ID: 24907139 Epilepsy Phenotypes and Genotype Determinants: Identical Twins Teach Lessons on Complexity Neurology. Sep, 2014 | Pubmed ID: 25107884 Sudden Unexpected Fatal Encephalopathy in Adults with OTC Gene Mutations-Clues for Early Diagnosis and Timely Treatment Orphanet Journal of Rare Diseases. Jul, 2014 | Pubmed ID: 25026867 How Can Advances in Epilepsy Genetics Lead to Better Treatments and Cures? Advances in Experimental Medicine and Biology. 2014 | Pubmed ID: 25012387 Malformations of Cortical Development: Clinical Features and Genetic Causes The Lancet. Neurology. Jul, 2014 | Pubmed ID: 24932993 Pathogenetic Mechanisms of Focal Cortical Dysplasia Epilepsia. Jul, 2014 | Pubmed ID: 24861491 Diagnosis of Immunodeficiency Caused by a Purine Nucleoside Phosphorylase Defect by Using Tandem Mass Spectrometry on Dried Blood Spots The Journal of Allergy and Clinical Immunology. Jul, 2014 | Pubmed ID: 24767876 Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2014 | Pubmed ID: 24664660 Adjunctive Zonisamide Therapy in the Long-term Treatment of Children with Partial Epilepsy: Results of an Open-label Extension Study of a Phase III, Randomized, Double-blind, Placebo-controlled Trial Epilepsia. Apr, 2014 | Pubmed ID: 24621319 Role of the Phosphoinositide Phosphatase FIG4 Gene in Familial Epilepsy with Polymicrogyria Neurology. Mar, 2014 | Pubmed ID: 24598713 The Inclusion of ADA-SCID in Expanded Newborn Screening by Tandem Mass Spectrometry Journal of Pharmaceutical and Biomedical Analysis. Jan, 2014 | Pubmed ID: 24076575 Language Regression Associated with Autistic Regression and Electroencephalographic (EEG) Abnormalities: a Prospective Study Journal of Child Neurology. Jun, 2014 | Pubmed ID: 23562946 Screening of Lysosomal Storage Disorders: Application of the Online Trapping-and-cleanup Liquid Chromatography/mass Spectrometry Method for Mucopolysaccharidosis I European Journal of Mass Spectrometry (Chichester, England). 2013 | Pubmed ID: 24378468 Making Memories: the Development of Long-term Visual Knowledge in Children with Visual Agnosia Neural Plasticity. 2013 | Pubmed ID: 24319599 Medium-chain Acyl-CoA Deficiency: Outlines from Newborn Screening, in Silico Predictions, and Molecular Studies TheScientificWorldJournal. 2013 | Pubmed ID: 24294134 De Novo Loss-of-function Mutations in CHD2 Cause a Fever-sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome American Journal of Human Genetics. Nov, 2013 | Pubmed ID: 24207121 Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders PloS One. 2013 | Pubmed ID: 24086423 Periventricular Heterotopia in 6q Terminal Deletion Syndrome: Role of the C6orf70 Gene Brain : a Journal of Neurology. Nov, 2013 | Pubmed ID: 24056535 Galactosialidosis: Review and Analysis of CTSA Gene Mutations Orphanet Journal of Rare Diseases. Aug, 2013 | Pubmed ID: 23915561 Functional Characterization of a Novel C-terminal ATP1A2 Mutation Causing Hemiplegic Migraine and Epilepsy Cephalalgia : an International Journal of Headache. Dec, 2013 | Pubmed ID: 23838748 A Randomized Phase III Trial of Adjunctive Zonisamide in Pediatric Patients with Partial Epilepsy Epilepsia. Aug, 2013 | Pubmed ID: 23837461 Clinical and Genetic Study of a Family with a Paternally Inherited 15q11-q13 Duplication American Journal of Medical Genetics. Part A. Jun, 2013 | Pubmed ID: 23633446 Myoclonus and Epilepsy Handbook of Clinical Neurology. 2013 | Pubmed ID: 23622214 New Clinical and Molecular Insights on Barth Syndrome Orphanet Journal of Rare Diseases. Feb, 2013 | Pubmed ID: 23409742 Tandem Mass Spectrometry, but Not T-cell Receptor Excision Circle Analysis, Identifies Newborns with Late-onset Adenosine Deaminase Deficiency The Journal of Allergy and Clinical Immunology. Jun, 2013 | Pubmed ID: 23280131 Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance JIMD Reports. 2012 | Pubmed ID: 23430936 PRRT2 Phenotypic Spectrum Includes Sporadic and Fever-related Infantile Seizures Neurology. Nov, 2012 | Pubmed ID: 23077018 Epilepsy in Rett Syndrome, and CDKL5- and FOXG1-gene-related Encephalopathies Epilepsia. Dec, 2012 | Pubmed ID: 22998673 Safety and Efficacy of Topiramate in Neonates with Hypoxic Ischemic Encephalopathy Treated with Hypothermia (NeoNATI) BMC Pediatrics. Sep, 2012 | Pubmed ID: 22950861 Benign Childhood Focal Epilepsies Epilepsia. Sep, 2012 | Pubmed ID: 22946717 Age-related Epileptic Encephalopathies Handbook of Clinical Neurology. 2012 | Pubmed ID: 22938971 Dravet Syndrome: the Main Issues European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Sep, 2012 | Pubmed ID: 22705271 Safety and Tolerability of Antiepileptic Drug Treatment in Children with Epilepsy Drug Safety. Jul, 2012 | Pubmed ID: 22702637 Focal Cortical Dysplasia Type IIb in the Rolandic Cortex: Functional Reorganization After Early Surgery Documented by Passive Task Functional MRI Epilepsia. Aug, 2012 | Pubmed ID: 22686520 A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012 Brain : a Journal of Neurology. May, 2012 | Pubmed ID: 22427329 Symmetric Polymicrogyria and Pachygyria Associated with TUBB2B Gene Mutations European Journal of Human Genetics : EJHG. Sep, 2012 | Pubmed ID: 22333901 Extremely Sustained Startle-induced Clonus: Non Epileptic Motor Attacks Mimicking Clonic Seizures in Children with Encephalopathy Seizure. Mar, 2012 | Pubmed ID: 22079856 Newborn Screening for Tyrosinemia Type I: Further Evidence That Succinylacetone Determination on Blood Spot Is Essential JIMD Reports. 2011 | Pubmed ID: 23430836 Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome PLoS Genetics. Jul, 2011 | Pubmed ID: 21779178 Dravet Syndrome and SCN1A Gene Mutation Related-epilepsies: Cognitive Impairment and Its Determinants Developmental Medicine and Child Neurology. Apr, 2011 | Pubmed ID: 21504426 GM1 Gangliosidosis와 Morquio B 질병: 유전 변경 및 임상 연구 결과 대 한 업데이트 Biochimica Et Biophysica Acta. Jul, 2011 | Pubmed ID: 21497194 Corpus Callosum Agenesis, Severe Mental Retardation, Epilepsy, and Dyskinetic Quadriparesis Due to a Novel Mutation in the Homeodomain of ARX American Journal of Medical Genetics. Part A. Apr, 2011 | Pubmed ID: 21416597 CDKL5 Gene-related Epileptic Encephalopathy: Electroclinical Findings in the First Year of Life Developmental Medicine and Child Neurology. Apr, 2011 | Pubmed ID: 21309761 The Clinicopathologic Spectrum of Focal Cortical Dysplasias: a Consensus Classification Proposed by an Ad Hoc Task Force of the ILAE Diagnostic Methods Commission Epilepsia. Jan, 2011 | Pubmed ID: 21219302 Contractions in the Second PolyA Tract of ARX Are Rare, Non-pathogenic Polymorphisms American Journal of Medical Genetics. Part A. Jan, 2011 | Pubmed ID: 21204226 Oral Topiramate in Neonates with Hypoxic Ischemic Encephalopathy Treated with Hypothermia: a Safety Study The Journal of Pediatrics. Sep, 2010 | Pubmed ID: 20553846 Clinical and Imaging Heterogeneity of Polymicrogyria: a Study of 328 Patients Brain : a Journal of Neurology. May, 2010 | Pubmed ID: 20403963 Neuronal Migration Disorders Neurobiology of Disease. May, 2010 | Pubmed ID: 19245832 New Strategy for the Screening of Lysosomal Storage Disorders: the Use of the Online Trapping-and-cleanup Liquid Chromatography/mass Spectrometry Analytical Chemistry. Aug, 2009 | Pubmed ID: 19555116 SCN1A Duplications and Deletions Detected in Dravet Syndrome: Implications for Molecular Diagnosis Epilepsia. Jul, 2009 | Pubmed ID: 19400878 Unbalanced GLA MRNAs Ratio Quantified by Real-time PCR in Fabry Patients' Fibroblasts Results in Fabry Disease European Journal of Human Genetics : EJHG. Nov, 2008 | Pubmed ID: 18560446 Malformations of Cortical Development and Epilepsy Dialogues in Clinical Neuroscience. 2008 | Pubmed ID: 18472484 Abnormal Development of the Human Cerebral Cortex: Genetics, Functional Consequences and Treatment Options Trends in Neurosciences. Mar, 2008 | Pubmed ID: 18262290 Subcortical Structures and Infantile Spasms Developmental Medicine and Child Neurology. Feb, 2008 | Pubmed ID: 18201297 배열 CGH, 전체 exome 시퀀싱과 설치류에 Utero에서 Electroporation 뇌 기형에 대 한 원인 유전자를 식별 하는 새로운 전략 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 Neuroscience
배열 CGH, 전체 exome 시퀀싱과 설치류에 Utero에서 Electroporation 뇌 기형에 대 한 원인 유전자를 식별 하는 새로운 전략 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 Neuroscience
