• Dravet Syndrome
    • Renzo Guerrini
    • Renzo Guerrini: Influence Statistics

      Renzo Guerrini

      Renzo Guerrini

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      Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, 50139 Florence, Italy;, valerio.conti@meyer.it, (V.C.);, ...

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      Renzo Guerrini:Expert Impact

      Concepts for whichRenzo Guerrinihas direct influence:Dravet syndrome,Cortical development,Epilepsy surgery,Cerebral cortex.

      Renzo Guerrini:KOL impact

      Concepts related to the work of other authors for whichfor which Renzo Guerrini has influence:Dravet syndrome,Cortical development,Epilepsy surgery,Intellectual disability,Antiepileptic drugs,Status epilepticus,Temporal lobe.

      KOL Resume for Renzo Guerrini


      Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, 50139 Florence, Italy;, (V.C.);, (L.M.);, (S.M.);, (L.P.);, (F.M.);, (C.M.);, (R.G.)

      Neurobiologia e Neurogenetica dei Disturbi del Neurosviluppo, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy


      Paediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence, Italy


      Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy

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      Sample of concepts for which Renzo Guerrini is among the top experts in the world.
      Concept World rank
      6 new patients #1
      chrna2 loss #1
      mutation type outcome #1
      r360h g501r #1
      aaf rates #1
      mtor gene fcd #1
      cortical development models #1
      eeg pattern csws #1
      patients severe epilepsy #1
      tsc autoimmune encephalitis #1
      epilepsy functional analysis #1
      lgs trisomy #1
      polymicrogyria neuropathological features #1
      function malformed cortex #1
      gla variants #1
      familial periventricular #1
      italy surgery #1
      surgery 92 ± #1
      reflex evoked potentials #1
      individual patients atlas #1
      patients variable severity #1
      ermard #1
      generalised spike waves #1
      posterior lissencephaly #1
      bects cbz #1
      synonymous epilepsy exons #1
      patients multilobar polymicrogyria #1
      polymicrogyria csws #1
      integrated fmri tms #1
      gross gene #1
      borderline dravet syndrome #1
      neurodevelopmental disorders epilepsy #1
      new rapid micromethod #1
      nmds abnormalities #1
      epilepsy mild #1
      19 patients pqd #1
      type gba #1
      severe epilepsy epilepsy #1
      fcd somatic variants #1
      deletion syndrome polymicrogyria #1
      cbz enm #1
      diffuse sbh #1
      cdg piga #1
      allele dosage fd #1
      ptrp168fs #1
      ptrp314fsx22 #1
      diffuse symmetric malformations #1
      ngs paucisymptomatic hyperckemia #1
      epilepsy phenotypes #1
      pvp motif #1
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      Prominent publications by Renzo Guerrini

      KOL-Index: 22256

      PURPOSE: We describe seven Italian families with generalized epilepsy with febrile seizures plus (GEFS+), in which mutations of SCN1A, SCN1B, and GABRG2 genes were excluded and compare their clinical spectrum with that of previously reported GEFS+ with known mutations.

      METHODS: We performed a clinical study of seven families (167 individuals). The molecular study included analysis of polymerase chain reaction (PCR) fragments of SCN1A and SCN1B exons by denaturing high-performance liquid ...

      Known for Generalized Epilepsy | Febrile Seizures | Scn1a Scn1b | Clinical Spectrum | Gefs Mutations
      KOL-Index: 20811

      IMPORTANCE: Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality.

      OBJECTIVE: To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly.

      DESIGN, SETTING, AND PARTICIPANTS: Patients with FCD, hemimegalencephaly, or megalencephaly (mean age, 11.7 years; ...

      Known for Pigmentary Mosaicism | Mtor Mutations | Focal Cortical Dysplasia | Fcd Hemimegalencephaly | Brain Tissue
      KOL-Index: 18739

      BACKGROUND: Dravet syndrome is a rare, treatment-resistant developmental epileptic encephalopathy characterised by multiple types of frequent, disabling seizures. Fenfluramine has been reported to have antiseizure activity in observational studies of photosensitive epilepsy and Dravet syndrome. The aim of the present study was to assess the efficacy and safety of fenfluramine in patients with Dravet syndrome.

      METHODS: In this randomised, double-blind, placebo-controlled clinical trial, ...

      Known for Dravet Syndrome | Fenfluramine Patients | Treatment Seizures | Observational Studies | Reduction Convulsive
      KOL-Index: 18670

      PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS).

      METHODS: Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were ...

      Known for Genetic Testing | Benign Familial | Kcnq2 Kcnq3 | Age Onset | Year Life
      KOL-Index: 14668

      Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic phosphoprotein and is involved in early brain neurogenesis and neuronal migration. A rare, ...

      Known for Periventricular Heterotopia | Phenotypic Heterogeneity | Flna Mutations | Bilateral Pnh | Neuronal Migration
      KOL-Index: 14188

      We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardation. ...

      Known for Myoclonic Epilepsy | Dominant Cortical | Chromosomes Human | Adcme Patients | Evoked Potentials
      KOL-Index: 13875

      BACKGROUND: With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic background. Macrocephaly also represents a well-known endophenotype in subgroups of ASD individuals, which suggests pathogenic mechanisms accelerating brain growth in early development and ...

      Known for Asd Epilepsy | Macrocephaly Pten | Intellectual Disability | Autism Spectrum Disorders | Paroxysmal Eeg
      KOL-Index: 13692

      Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X-linked bilateral periventricular nodular ...

      Known for Cerebral Cortex | Genetic Malformations | Patients Epilepsy | Tuberous Sclerosis | Infantile Spasms
      KOL-Index: 13348

      BACKGROUND: Subcortical band heterotopia (SBH) is a neuronal migration disorder. DCX mutations are responsible for almost all familial cases, 80% of sporadic female cases, and 25% of sporadic male cases of SBH, and are associated with more severe gyral and migration abnormality over the anterior brain regions. Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a mutation of the LIS1 gene, which is usually mutated in patients with severe ...

      Known for Mosaic Mutations | Lis1 Gene | Subcortical Band Heterotopia | Mutation Patients | Familial Cases
      KOL-Index: 12963

      PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.

      METHODS: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by ...

      Known for Smei Smeb | Myoclonic Epilepsy | Idiopathic Epilepsies | Febrile Seizures | Scn1a Mutations
      KOL-Index: 12962

      Indications for vagus nerve stimulation (VNS) therapy include focal, multifocal epilepsy, drop attacks (tonic/atonic seizures), Lennox-Gastaut syndrome, tuberous sclerosis complex (TSC)-related multifocal epilepsy, and unsuccessful resective surgery. Surgical outcome is about 50-60% for seizures control, and may also improve mood, cognition, and memory. On this basis, VNS has also been proposed for the treatment of major depression and Alzheimer's' disease. The vagus nerve stimulator ...

      Known for Vagus Nerve | Surgical Technique | Vns Therapy | Stimulation Surgery | Electrodes Implanted
      KOL-Index: 12938

      BACKGROUND: Surgery is a widely accepted treatment option for drug-resistant focal epilepsy. A detailed analysis of longitudinal postoperative seizure outcomes and use of antiepileptic drugs for different brain lesions causing epilepsy is not available. We aimed to analyse the association between histopathology and seizure outcome and drug freedom up to 5 years after epilepsy surgery, to improve presurgical decision making and counselling.

      METHODS: In this retrospective, multicentre, ...

      Known for Epilepsy Surgery | Seizure Outcome | Histopathological Diagnosis | Hippocampal Sclerosis | Antiepileptic Drugs
      KOL-Index: 12382

      We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral ...

      Known for Genetic Testing | Patients Epilepsy | Lissencephaly Sbh | Infantile Spasms | Clinical Presentation
      KOL-Index: 12268

      Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 ...

      Known for Severe Epilepsy Mutations | Neuronal Migration Disorders | Infantile Spasms | Subcortical Band Heterotopia | Lis1 Dcx
      KOL-Index: 12058

      BACKGROUND: LIS1 is the main gene causing classical (isolated) lissencephaly predominating in the posterior brain regions (p>a). However, about 40% of patients with this malformation pattern show no abnormality after fluorescence in situ hybridisation (FISH) analysis of the 17p13.3 region and LIS1 sequencing. To investigate whether alternative gene(s) or genomic deletions/duplications of LIS1 may account for the high percentage of individuals who show no abnormalities on FISH and ...

      Known for Genomic Deletions | Lis1 Gene | Molecular Diagnosis | Situ Hybridization | 17p133 Region

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      Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, 50139 Florence, Italy;, valerio.conti@meyer.it, (V.C.);, lorenza.marini@meyer.it, (L.M.);, sara.minghetti@hotmail.it, (S.M.);, laura.pietrangelo

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