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Subcortical structures and infantile spasms.
Developmental medicine and child neurology Feb, 2008 | Pubmed ID: 18201297
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
Trends in neurosciences Mar, 2008 | Pubmed ID: 18262290
Malformations of cortical development and epilepsy.
Dialogues in clinical neuroscience , 2008 | Pubmed ID: 18472484
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
Neuronal migration disorders.
Neurobiology of disease May, 2010 | Pubmed ID: 19245832
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Epilepsia Jul, 2009 | Pubmed ID: 19400878
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
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology May, 2010 | Pubmed ID: 20403963
Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study.
The Journal of pediatrics Sep, 2010 | Pubmed ID: 20553846
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
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
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
Developmental medicine and child neurology Apr, 2011 | Pubmed ID: 21309761
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
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Biochimica et biophysica acta Jul, 2011 | Pubmed ID: 21497194
Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.
Developmental medicine and child neurology Apr, 2011 | Pubmed ID: 21504426
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS genetics Jul, 2011 | Pubmed ID: 21779178
Extremely sustained startle-induced clonus: non epileptic motor attacks mimicking clonic seizures in children with encephalopathy.
Seizure Mar, 2012 | Pubmed ID: 22079856
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
European journal of human genetics : EJHG Sep, 2012 | Pubmed ID: 22333901
A developmental and genetic classification for malformations of cortical development: update 2012.
Brain : a journal of neurology May, 2012 | Pubmed ID: 22427329
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
Safety and tolerability of antiepileptic drug treatment in children with epilepsy.
Drug safety Jul, 2012 | Pubmed ID: 22702637
Dravet syndrome: the main issues.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Sep, 2012 | Pubmed ID: 22705271
Age-related epileptic encephalopathies.
Handbook of clinical neurology , 2012 | Pubmed ID: 22938971
Benign childhood focal epilepsies.
Epilepsia Sep, 2012 | Pubmed ID: 22946717
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).
BMC pediatrics Sep, 2012 | Pubmed ID: 22950861
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
Epilepsia Dec, 2012 | Pubmed ID: 22998673
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Neurology Nov, 2012 | Pubmed ID: 23077018
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
New clinical and molecular insights on Barth syndrome.
Orphanet journal of rare diseases Feb, 2013 | Pubmed ID: 23409742
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
JIMD reports , 2011 | Pubmed ID: 23430836
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
JIMD reports , 2012 | Pubmed ID: 23430936
Language regression associated with autistic regression and electroencephalographic (EEG) abnormalities: a prospective study.
Journal of child neurology Jun, 2014 | Pubmed ID: 23562946
Myoclonus and epilepsy.
Handbook of clinical neurology , 2013 | Pubmed ID: 23622214
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
A randomized phase III trial of adjunctive zonisamide in pediatric patients with partial epilepsy.
Epilepsia Aug, 2013 | Pubmed ID: 23837461
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
Galactosialidosis: review and analysis of CTSA gene mutations.
Orphanet journal of rare diseases Aug, 2013 | Pubmed ID: 23915561
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Brain : a journal of neurology Nov, 2013 | Pubmed ID: 24056535
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.
Journal of pharmaceutical and biomedical analysis Jan, 2014 | Pubmed ID: 24076575
Somatic overgrowth predisposes to seizures in autism spectrum disorders.
PloS one , 2013 | Pubmed ID: 24086423
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
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
TheScientificWorldJournal , 2013 | Pubmed ID: 24294134
Making memories: the development of long-term visual knowledge in children with visual agnosia.
Neural plasticity , 2013 | Pubmed ID: 24319599
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
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Neurology Mar, 2014 | Pubmed ID: 24598713
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
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
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
Pathogenetic mechanisms of focal cortical dysplasia.
Epilepsia Jul, 2014 | Pubmed ID: 24861491
Late-onset epileptic spasms: clinical evidence and outcome in 34 patients.
Journal of child neurology Feb, 2015 | Pubmed ID: 24907139
Malformations of cortical development: clinical features and genetic causes.
The Lancet. Neurology Jul, 2014 | Pubmed ID: 24932993
How can advances in epilepsy genetics lead to better treatments and cures?
Advances in experimental medicine and biology , 2014 | Pubmed ID: 25012387
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
Epilepsy phenotypes and genotype determinants: Identical twins teach lessons on complexity.
Neurology Sep, 2014 | Pubmed ID: 25107884
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
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
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
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
Neurology Apr, 2015 | Pubmed ID: 25770198
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
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
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
Early and effective treatment of KCNQ2 encephalopathy.
Epilepsia May, 2015 | Pubmed ID: 25880994
Malformations of cortical development and epilepsy.
Cold Spring Harbor perspectives in medicine May, 2015 | Pubmed ID: 25934463
A versatile clearing agent for multi-modal brain imaging.
Scientific reports May, 2015 | Pubmed ID: 25950610
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
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Human molecular genetics Sep, 2015 | Pubmed ID: 26123493
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.
PloS one , 2015 | Pubmed ID: 26132164
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
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.
PloS one , 2015 | Pubmed ID: 26176859
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.
Epilepsy & behavior : E&B Aug, 2015 | Pubmed ID: 26189786
Antiepileptic Drug Treatment in Children with Epilepsy.
CNS drugs , 2015 | Pubmed ID: 26400189
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
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
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Seizure Feb, 2016 | Pubmed ID: 26820223
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
Neurology Mar, 2016 | Pubmed ID: 26944271
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
JAMA neurology Jul, 2016 | Pubmed ID: 27159400
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
Dravet syndrome: Not just epilepsy.
Neurology Jul, 2016 | Pubmed ID: 27316245
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Human genetics Oct, 2016 | Pubmed ID: 27368338
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
JCI insight 06, 2016 | Pubmed ID: 27631024
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
Genetic Basis of Brain Malformations.
Molecular syndromology Sep, 2016 | Pubmed ID: 27781032
Epilepsy in ring chromosome 20 syndrome.
Epilepsy research Dec, 2016 | Pubmed ID: 27816898
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurology. Genetics Dec, 2016 | Pubmed ID: 27830187
Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies.
Journal of neurology Jan, 2017 | Pubmed ID: 27844163
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
Age-related differences in audiovisual interactions of semantically different stimuli.
Developmental psychology 01, 2017 | Pubmed ID: 27893235
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
Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.
Journal of biophotonics Jun, 2017 | Pubmed ID: 28067998
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
Cerebellum (London, England) Jun, 2017 | Pubmed ID: 28091863
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Molecular diagnosis & therapy Aug, 2017 | Pubmed ID: 28197949
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Neurology Mar, 2017 | Pubmed ID: 28202706
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
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
American journal of medical genetics. Part A Apr, 2017 | Pubmed ID: 28328131
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Neurology. Genetics Apr, 2017 | Pubmed ID: 28357411
Hemicerebellitis can drive handedness shift.
Cerebellum & ataxias , 2017 | Pubmed ID: 28919980
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Human molecular genetics Nov, 2017 | Pubmed ID: 28973171
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain : a journal of neurology Sep, 2017 | Pubmed ID: 29050398
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
1, University of Florence,
2, INSERM INMED,
3, Aix-Marseille University,
4, Plateforme Biologie Moléculaire et Cellulaire INMED,
5, Royal Children's Hospital,
6, Murdoch Children's Research Institute,
7, University of Melbourne,
8, Plateforme postgenomique INMED,
9, University of Pavia,
10, Wellcome Trust Centre for Human Genetics,
11, Oxford Radcliffe NHS Trust,
12, IRCCS Casimiro Mondino Foundation,
13, Research Institute of Molecular Pathology,
14, IRCCS Stella Maris,
15, Columbia University
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