Renzo Guerrini

University of Florence

Affiliated withUniversity of Florence IRCCS Stella Maris

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2017

Other Publications

Article	Year
Subcortical structures and infantile spasms. Developmental medicine and child neurology\| PubMed ID: 18201297	2008
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends in neurosciences\| PubMed ID: 18262290	2008
Malformations of cortical development and epilepsy. Dialogues in clinical neuroscience\| PubMed ID: 18472484	2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. European journal of human genetics : EJHG\| PubMed ID: 18560446	2008
Neuronal migration disorders. Neurobiology of disease\| PubMed ID: 19245832	2010
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia\| PubMed ID: 19400878	2009
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Analytical chemistry\| PubMed ID: 19555116	2009
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain : a journal of neurology\| PubMed ID: 20403963	2010
Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study. The Journal of pediatrics\| PubMed ID: 20553846	2010
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. American journal of medical genetics. Part A\| PubMed ID: 21204226	2011
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia\| PubMed ID: 21219302	2011
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental medicine and child neurology\| PubMed ID: 21309761	2011
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\| PubMed ID: 21416597	2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochimica et biophysica acta\| PubMed ID: 21497194	2011
Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Developmental medicine and child neurology\| PubMed ID: 21504426	2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS genetics\| PubMed ID: 21779178	2011
Extremely sustained startle-induced clonus: non epileptic motor attacks mimicking clonic seizures in children with encephalopathy. Seizure\| PubMed ID: 22079856	2012
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. European journal of human genetics : EJHG\| PubMed ID: 22333901	2012
A developmental and genetic classification for malformations of cortical development: update 2012. Brain : a journal of neurology\| PubMed ID: 22427329	2012
Focal cortical dysplasia type IIb in the rolandic cortex: functional reorganization after early surgery documented by passive task functional MRI. Epilepsia\| PubMed ID: 22686520	2012
Safety and tolerability of antiepileptic drug treatment in children with epilepsy. Drug safety\| PubMed ID: 22702637	2012
Dravet syndrome: the main issues. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society\| PubMed ID: 22705271	2012
Age-related epileptic encephalopathies. Handbook of clinical neurology\| PubMed ID: 22938971	2012
Benign childhood focal epilepsies. Epilepsia\| PubMed ID: 22946717	2012
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI). BMC pediatrics\| PubMed ID: 22950861	2012
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia\| PubMed ID: 22998673	2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology\| PubMed ID: 23077018	2012
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\| PubMed ID: 23280131	2013
New clinical and molecular insights on Barth syndrome. Orphanet journal of rare diseases\| PubMed ID: 23409742	2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential. JIMD reports\| PubMed ID: 23430836	2011
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. JIMD reports\| PubMed ID: 23430936	2012
Language regression associated with autistic regression and electroencephalographic (EEG) abnormalities: a prospective study. Journal of child neurology\| PubMed ID: 23562946	2014
Myoclonus and epilepsy. Handbook of clinical neurology\| PubMed ID: 23622214	2013
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. American journal of medical genetics. Part A\| PubMed ID: 23633446	2013
A randomized phase III trial of adjunctive zonisamide in pediatric patients with partial epilepsy. Epilepsia\| PubMed ID: 23837461	2013
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy. Cephalalgia : an international journal of headache\| PubMed ID: 23838748	2013
Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet journal of rare diseases\| PubMed ID: 23915561	2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a journal of neurology\| PubMed ID: 24056535	2013
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry. Journal of pharmaceutical and biomedical analysis\| PubMed ID: 24076575	2014
Somatic overgrowth predisposes to seizures in autism spectrum disorders. PloS one\| PubMed ID: 24086423	2013
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\| PubMed ID: 24207121	2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. TheScientificWorldJournal\| PubMed ID: 24294134	2013
Making memories: the development of long-term visual knowledge in children with visual agnosia. Neural plasticity\| PubMed ID: 24319599	2013
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)\| PubMed ID: 24378468	2013
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology\| PubMed ID: 24598713	2014
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-control... Epilepsia\| PubMed ID: 24621319	2014
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 24664660	2014
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\| PubMed ID: 24767876	2014
Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia\| PubMed ID: 24861491	2014
Late-onset epileptic spasms: clinical evidence and outcome in 34 patients. Journal of child neurology\| PubMed ID: 24907139	2015
Malformations of cortical development: clinical features and genetic causes. The Lancet. Neurology\| PubMed ID: 24932993	2014
How can advances in epilepsy genetics lead to better treatments and cures? Advances in experimental medicine and biology\| PubMed ID: 25012387	2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. Orphanet journal of rare diseases\| PubMed ID: 25026867	2014
Epilepsy phenotypes and genotype determinants: Identical twins teach lessons on complexity. Neurology\| PubMed ID: 25107884	2014
Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry. Clinica chimica acta; international journal of clinical chemistry\| PubMed ID: 25447695	2015
A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit? Epilepsy & behavior : E&B\| PubMed ID: 25569746	2015
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\| PubMed ID: 25755106	2015
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. Neurology\| PubMed ID: 25770198	2015
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\| PubMed ID: 25770414	2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. European journal of human genetics : EJHG\| PubMed ID: 25782672	2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. Clinica chimica acta; international journal of clinical chemistry\| PubMed ID: 25795614	2015
Early and effective treatment of KCNQ2 encephalopathy. Epilepsia\| PubMed ID: 25880994	2015
Malformations of cortical development and epilepsy. Cold Spring Harbor perspectives in medicine\| PubMed ID: 25934463	2015
A versatile clearing agent for multi-modal brain imaging. Scientific reports\| PubMed ID: 25950610	2015
A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy. Epilepsia\| PubMed ID: 26046371	2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human molecular genetics\| PubMed ID: 26123493	2015
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy. PloS one\| PubMed ID: 26132164	2015
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\| PubMed ID: 26169758	2015
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis. PloS one\| PubMed ID: 26176859	2015
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation. Epilepsy & behavior : E&B\| PubMed ID: 26189786	2015
Antiepileptic Drug Treatment in Children with Epilepsy. CNS drugs\| PubMed ID: 26400189	2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology\| PubMed ID: 26520804	2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease. Clinica chimica acta; international journal of clinical chemistry\| PubMed ID: 26528637	2016
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure\| PubMed ID: 26820223	2016
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. Neurology\| PubMed ID: 26944271	2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA neurology\| PubMed ID: 27159400	2016
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\| PubMed ID: 27311915	2016
Dravet syndrome: Not just epilepsy. Neurology\| PubMed ID: 27316245	2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. Human genetics\| PubMed ID: 27368338	2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI insight\| PubMed ID: 27631024	2016
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\| PubMed ID: 27779620	2016
Genetic Basis of Brain Malformations. Molecular syndromology\| PubMed ID: 27781032	2016
Epilepsy in ring chromosome 20 syndrome. Epilepsy research\| PubMed ID: 27816898	2016
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurology. Genetics\| PubMed ID: 27830187	2016
Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies. Journal of neurology\| PubMed ID: 27844163	2017
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Human mutation\| PubMed ID: 27864847	2017
Age-related differences in audiovisual interactions of semantically different stimuli. Developmental psychology\| PubMed ID: 27893235	2017
Mycophenolate mofetil as induction and long-term maintaining treatment in childhood: Primary angiitis of the central nervous system. Joint, bone, spine : revue du rhumatisme\| PubMed ID: 28034820	2017
Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children. Journal of biophotonics\| PubMed ID: 28067998	2017
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy. Cerebellum (London, England)\| PubMed ID: 28091863	2017
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Molecular diagnosis & therapy\| PubMed ID: 28197949	2017
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology\| PubMed ID: 28202706	2017
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\| PubMed ID: 28274169	2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. American journal of medical genetics. Part A\| PubMed ID: 28328131	2017
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurology. Genetics\| PubMed ID: 28357411	2017
Hemicerebellitis can drive handedness shift. Cerebellum & ataxias\| PubMed ID: 28919980	2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Human molecular genetics\| PubMed ID: 28973171	2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain : a journal of neurology\| PubMed ID: 29050398	2017