R Guerrini

Summary

Affiliation: University of Florence
Country: Italy

Publications

  1. ncbi Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Firenze, Italy
    J Clin Neurophysiol 27:372-9. 2010
  2. ncbi Myoclonus and epilepsy
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy Electronic address
    Handb Clin Neurol 111:667-79. 2013
  3. ncbi Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 53:2067-78. 2012
  4. ncbi Benign childhood focal epilepsies
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 53:9-18. 2012
  5. ncbi Dravet syndrome: the main issues
    Renzo Guerrini
    Pediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Eur J Paediatr Neurol 16:S1-4. 2012
  6. ncbi Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Eur J Hum Genet 20:995-8. 2012
  7. ncbi Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis
    Tiziana Pisano
    Pediatric Neurology and Neurogenetics Unit, Children s Hospital A Meyer University of Florence, Florence, Italy
    Neurology 79:1244-51. 2012
  8. ncbi Safety and tolerability of antiepileptic drug treatment in children with epilepsy
    Renzo Guerrini
    Paediatric Neurology Unit and Laboratories, Childrens Hospital A Meyer, University of Florence, Italy
    Drug Saf 35:519-33. 2012
  9. ncbi Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
    R Guerrini
    Department of Pediatric Neurosciences, Pediatric Hospital A Meyer and University of Florence, Firenze, Italy
    Neurology 69:427-33. 2007
  10. ncbi Neuronal migration disorders
    Renzo Guerrini
    Pediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Florence, Italy
    Neurobiol Dis 38:154-66. 2010

Detail Information

Publications97

  1. ncbi Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Firenze, Italy
    J Clin Neurophysiol 27:372-9. 2010
    ..Surgical planning for associated epilepsy should therefore be based on individual assessments of structural imaging and of the major functions relevant to the area in question in the individual patient...
  2. ncbi Myoclonus and epilepsy
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy Electronic address
    Handb Clin Neurol 111:667-79. 2013
    ..In patients with cortical tremor this correlation is less obvious and requires neurophysiological studies to be demonstrated...
  3. ncbi Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 53:2067-78. 2012
    ..Efforts to characterize the molecular pathology underlying these developmental encephalopathies are pointing to abnormalities of telencephalic development, neuronal morphogenesis, maturation and maintenance, and dendritic arborization...
  4. ncbi Benign childhood focal epilepsies
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 53:9-18. 2012
    ..In such cases, the term benign is obviously inappropriate, even when seizures are rare. In most patients with the typical focal idiopathic epilepsy syndromes, medication is not necessary...
  5. ncbi Dravet syndrome: the main issues
    Renzo Guerrini
    Pediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Eur J Paediatr Neurol 16:S1-4. 2012
    ..Prospective studies will clarify to what extent earlier diagnosis and efforts at seizure control with the most appropriate drug combinations will reduce clinical deterioration...
  6. ncbi Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Eur J Hum Genet 20:995-8. 2012
    ..The phenotypic spectrum associated with TUBB2B mutations is wider than previously reported and includes diffuse, symmetric malformations of cortical development...
  7. ncbi Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis
    Tiziana Pisano
    Pediatric Neurology and Neurogenetics Unit, Children s Hospital A Meyer University of Florence, Florence, Italy
    Neurology 79:1244-51. 2012
    ..To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex...
  8. ncbi Safety and tolerability of antiepileptic drug treatment in children with epilepsy
    Renzo Guerrini
    Paediatric Neurology Unit and Laboratories, Childrens Hospital A Meyer, University of Florence, Italy
    Drug Saf 35:519-33. 2012
    ....
  9. ncbi Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
    R Guerrini
    Department of Pediatric Neurosciences, Pediatric Hospital A Meyer and University of Florence, Firenze, Italy
    Neurology 69:427-33. 2007
    ....
  10. ncbi Neuronal migration disorders
    Renzo Guerrini
    Pediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Florence, Italy
    Neurobiol Dis 38:154-66. 2010
    ..Conservation of function in the malformed cortex, its atypical representation, and relocation outside the malformed area are all possible. Localization of function based on anatomic landmarks may not be reliable...
  11. ncbi Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
    Renzo Guerrini
    Child Neurology Unit, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 51:2474-7. 2010
    ..SCN1A deletions should be ruled out even in individuals with mild phenotypes...
  12. ncbi CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life
    Federico Melani
    Paediatric Neurology Unit and Laboratories, A Meyer Children s Hospital, University of Florence, Florence, Italy
    Dev Med Child Neurol 53:354-60. 2011
    ..We performed video-electroencephalography (video-EEG) monitoring early in the course of CDKL5-related epileptic encephalopathy in order to examine the early electroclinical characteristics of the condition...
  13. ncbi Borderline Dravet syndrome: a useful diagnostic category?
    Renzo Guerrini
    Children s Hospital A Meyer and University of Florence, Florence, Italy
    Epilepsia 52:10-2. 2011
    ..An initial definition of SCN1A gene-related epilepsy would perhaps be more suitable when a mutation of this gene is ascertained and the clinical picture is still ill defined...
  14. ncbi Neuroimaging and neuropathology of Dravet syndrome
    Renzo Guerrini
    Children s Hospital A Meyer and University of Florence, Florence, Italy
    Epilepsia 52:30-4. 2011
    ....
  15. ncbi Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants
    Renzo Guerrini
    Paediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Viale Pieraccini, Firenze, Italy
    Dev Med Child Neurol 53:11-5. 2011
    ....
  16. ncbi FLNA genomic rearrangements cause periventricular nodular heterotopia
    K R Clapham
    Harvard MIT Division of Health Sciences and Technology, Boston, MA, USA
    Neurology 78:269-78. 2012
    ..To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative...
  17. ncbi Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options
    Renzo Guerrini
    Department of Neurology and Neurosurgery, Children s Hospital A Meyer, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy
    Trends Neurosci 31:154-62. 2008
    ..Surgical planning should be based on assessments of structural imaging and of the major functions relevant to the area in question in any such patient...
  18. ncbi A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry
    Giancarlo la Marca
    Mass Spectrometry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Department of Neurosciences, A Meyer Children s Hospital, Florence, Italy
    Epilepsia 50:2658-62. 2009
    ..5 times higher throughput of phenobarbital analysis and additionally offers ease of sample collection which is particularly important for newborns or small infants...
  19. ncbi Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
    L Ferri
    Department of Sciences for Woman and Child s Health, University of Florence, Florence, Italy
    Clin Genet 81:224-33. 2012
    ..The identification of haplotypes in control males provides evidence against their involvement in the development of FD phenotypic manifestations...
  20. ncbi Protocadherin 19 mutations in girls with infantile-onset epilepsy
    C Marini
    Child Neurology Unit, Children s Hospital A Meyer, Viale Pieraccini 24, 50139 Firenze, Italy
    Neurology 75:646-53. 2010
    ..To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy...
  21. ncbi High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis
    D Mei
    Pediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Florence, Italy
    J Med Genet 45:355-61. 2008
    ....
  22. ncbi Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
    C Cardoso
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Firenze, Italy
    Neurology 72:784-92. 2009
    ..Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned...
  23. ncbi An integrated fMRI, SEPs and MEPs approach for assessing functional organization in the malformed sensorimotor cortex
    C Barba
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Viale Pieraccini 24, 50139 Florence, Italy
    Epilepsy Res 89:66-71. 2010
    ....
  24. ncbi New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
    Giancarlo la Marca
    Mass Spectrometry and Pharmacology Laboratory, A Meyer Children s Hospital Pediatric Neurology Unit and Laboratories, Department of Pharmacology, University of Florence, Florence, Italy
    Anal Chem 81:6113-21. 2009
    ..The results show that the method set out in its simplicity, low costs, and low processes preparations can be fully applicable to a mass screening...
  25. ncbi The genetics of Dravet syndrome
    Carla Marini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 52:24-9. 2011
    ..Rare mutations have been identified in the GABARG2 and SCN1B genes. The etiology of about 20% of DS patients remains unknown, and additional genes are likely to be implicated...
  26. ncbi Unpleasant auditory illusions and related avoidance behaviour in a child
    Carmen Barba
    Department of Pediatric Neurosciences, Pediatric Hospital A Meyer, and University of Firenze, Italy
    Epileptic Disord 10:35-8. 2008
    ..Clinical evaluation and video-recording of the seizures, confirmed that most of the ictal behavior was deliberately directed at trying to prevent the unpleasant sensations reaching his ears. [Published with video sequences]...
  27. ncbi Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study
    Luca Filippi
    Neonatal Intensive Care Unit, Department of Critical Care Medicine, A Meyer University Children s Hospital, and Department of Pharmacology, University of Florence, Florence, Italy
    J Pediatr 157:361-6. 2010
    ..To investigate whether topiramate associated with mild or deep hypothermia in asphyxiated term infants is safe in relation to the short-term outcome...
  28. ncbi Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric method
    Giancarlo la Marca
    Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, A Meyer Children s Hospital, Florence, Italy
    J Pharm Biomed Anal 54:192-7. 2011
    ..2-0.5 mL of plasma and are therefore unsuitable for sample collection in neonates in whom obtaining larger blood samples is not convenient or possible...
  29. ncbi Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy
    Luca Filippi
    Neonatal Intensive Care Unit, Department of Critical Care Medicine, A Meyer University Children s Hospital, Florence, Italy
    Epilepsia 50:2355-61. 2009
    ..The influence of hypothermia on topiramate pharmacokinetics was evaluated in asphyxiated neonates treated with prolonged whole-body hypothermia and topiramate...
  30. ncbi Rapid assay of topiramate in dried blood spots by a new liquid chromatography-tandem mass spectrometric method
    Giancarlo la Marca
    Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, A Meyer Children s Hospital, Florence, Italy
    J Pharm Biomed Anal 48:1392-6. 2008
    ..FPIA also proved to be precise and accurate, but is not always suitable for the sample collection in neonates in whom obtaining larger blood samples is not convenient or possible...
  31. ncbi Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16
    S Catarzi
    Metabolic and Muscular Unit, Clinical of Paediatric Neurology, Meyer Children s Hospital, University of Florence, Florence, Italy
    Mol Genet Metab 105:438-42. 2012
    ..The possibility of UPD is relevant when giving genetic counseling to couples since the recurrent risk in future pregnancies is dramatically reduced...
  32. ncbi Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia
    D Mei
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Via Luca Giordano 13, 50123, Florence, Italy
    Neurology 68:446-50. 2007
    ..Our purpose was to verify the extent to which exonic deletions or duplications of the DCX gene would account for sporadic SBH with A>P gradient but normal gene sequencing...
  33. ncbi Functional studies of new GLA gene mutations leading to conformational Fabry disease
    C Filoni
    Metabolic and Muscular Unit, Clinic of Pediatric Neurology, A O U Meyer, Florence, Italy
    Biochim Biophys Acta 1802:247-52. 2010
    ..Our study endorses the hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects...
  34. ncbi GALNS gene expression profiling in Morquio A patients' fibroblasts
    L Carraresi
    Metabolic and Muscular Unit, Clinic of Pediatric Neurology, AOU Meyer, Florence, Italy
    Clin Chim Acta 397:72-6. 2008
    ....
  35. ncbi Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations
    Elena Parrini
    Pediatric Neurology and Neurogenetics Unit, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 50:1344-53. 2009
    ..No detailed description of the epilepsy is available for the patients reported to date. We report three consanguineous families in which four affected individuals with BFPP and GPR56 mutations had Lennox-Gastaut syndrome...
  36. ncbi Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
    Saul A Mullen
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Australia
    Arch Neurol 68:1152-5. 2011
    ..To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency...
  37. ncbi Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
    Davide Mei
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Viale Pieraccini 24, Florence, Italy
    Epilepsia 51:647-54. 2010
    ..We investigated the role of CDKL5 deletions/duplications in causing early onset intractable epilepsy of unknown etiology in girls...
  38. ncbi SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis
    Carla Marini
    Child Neurology Unit, Children s Hospital A Meyer, University of Florence, Florence, Italy
    Epilepsia 50:1670-8. 2009
    ....
  39. ncbi Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
    Kate Everett
    General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute Child Health, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Epilepsy Res 75:145-53. 2007
    ..We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy...
  40. ncbi Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy
    Epilepsia 48:1678-85. 2007
    ..We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations...
  41. ncbi Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy
    Ferdinanda Annesi
    Institute of Neurological Sciences, National Research Council, Mangone Cosenza, Italy
    Epilepsia 48:1686-90. 2007
    ..Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene...
  42. ncbi The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Pisa, Italy
    Biochem Pharmacol 74:1308-14. 2007
    ....
  43. ncbi Subcortical structures and infantile spasms
    Renzo Guerrini
    A Meyer Children's Hospital, University of Florence, Italy
    Dev Med Child Neurol 50:87. 2008
  44. ncbi A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Am J Med Genet A 146:1754-60. 2008
    ..Stringent correlations between submicroscopic imbalances, specific behavioral phenotypes and brain imaging will possibly help in dissecting complex behavioral traits...
  45. ncbi No major role for the EMX2 gene in schizencephaly
    Elisa Merello
    Department of Neurosurgery, Gaslini Institute, Genoa, Italy
    Am J Med Genet A 146:1142-50. 2008
    ..We conclude that the reported association between SCH and EMX2 mutations is not adequately supported by current data, and that diagnostic testing of EMX2 is not justified, as any results would be uninterpretable...
  46. ncbi Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
    Epilepsia 48:1092-6. 2007
    ..To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome)...
  47. ncbi Electrophysiological characterization of spontaneous and carbamazepine-induced epileptic negative myoclonus in benign childhood epilepsy with centro-temporal spikes
    Lucio Parmeggiani
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Via dei Giacinti 1, 56018 Calambrone, Pisa, Italy
    Clin Neurophysiol 115:50-8. 2004
    ..If confirmed on a larger series, the presence of spike-wave (rather than sharp waves) discharges in children with BECTS might be used as an electrophysiological predictor of an abnormal response to CBZ...
  48. ncbi Periventricular nodular heterotopia with overlying polymicrogyria
    Gretchen Wieck
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Brain 128:2811-21. 2005
    ..Delineation of these syndromes will also aid in providing more accurate diagnosis and prognostic information for patients with these malformations...
  49. ncbi Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    Mitsuhiro Kato
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Hum Mutat 23:147-59. 2004
    ....
  50. ncbi Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes
    Xianhua Piao
    Division of Newborn Medicine, Department of Medicine, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 58:680-7. 2005
    ..No GPR56 mutation was found in these patients. This study provides a molecular confirmation of the BFPP phenotype and provides the wherewithal for diagnostic screening...
  51. ncbi Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation
    Tiziana Pisano
    Department of Child Neurology and Psychiatry, University of Cagliari, Cagliari, Italy
    Epilepsia 46:118-23. 2005
    ..The newly identified LGI1 mutation might underlie both the seizure disorder and the neuropsychological deficits...
  52. ncbi Nonconvulsive status epilepticus precipitated by carbamazepine presenting as dissociative and affective disorders in adolescents
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetics Unit, IRCCS Stella Maris Foundation, Pisa, Italy
    J Child Neurol 20:693-6. 2005
    ..Nonconvulsive status epilepticus should be suspected and searched for in patients with epileptic seizures and ictal or fluctuating behavioral disorders...
  53. ncbi Epilepsy and malformations of the cerebral cortex
    Renzo Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Calambrone, Italy
    Epileptic Disord 5:S9-26. 2003
    ..Bilateral perisylvian polymicrogyria may be familial. Patients present with faciopharingo-glosso-masticatory diplegia and epilepsy, which is severe in about 65% of patients...
  54. ncbi Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy
    Ann Neurol 54:30-7. 2003
    ..Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal...
  55. ncbi Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations
    Paolo Bonanni
    Epilepsy, Neurophysiology, Neurogenetics Unit, IRCCS Fondazione Stella Maris, Pisa, Italy
    Epilepsia 45:149-58. 2004
    ..The observation that 13% of affected individuals had focal epilepsy confirms previously reported rates and should prompt a reformulation of the "GEFS+" concept to include focal epileptogenesis...
  56. ncbi Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia
    Ann Neurol 55:550-7. 2004
    ..Ictal recordings in four subjects showed onset in the posterior quadrants. SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis...
  57. ncbi Neuronal migration disorders, genetics, and epileptogenesis
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, Stella Maris Foundation, Pisa, Italy
    J Child Neurol 20:287-99. 2005
    ..2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene...
  58. ncbi Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)
    Mirella Filocamo
    Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini, Genoa, Italy
    Epilepsia 45:1154-7. 2004
    ..Early differential diagnosis from other forms of progressive myoclonus epilepsy with similar clinical presentation may help provide appropriate genetic counseling...
  59. ncbi Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Maria Daniela D'Agostino
    Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
    Brain 125:2507-22. 2002
    ..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes...
  60. ncbi Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
    Elena Parrini
    IRCCS Stella Maris Foundation, Scientific Institute for Child and Adolescence Neurology and Psychiatry, Pisa, Italy
    Neurogenetics 5:191-6. 2004
    ..Mosaicism can influence the recurrence risk rates in affected women. Mosaic mutations in men may not be transmitted to their daughters, masking the X-linked nature of the disorder...
  61. ncbi Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
    Rosanna Chifari
    Regional Centre of Epilepsy, San Paolo Hospital Milano, Italy
    Epilepsia 43:1096-100. 2002
    ..We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome...
  62. ncbi Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
    Adv Neurol 95:273-9. 2005
  63. ncbi Genetic malformations of the cerebral cortex and epilepsy
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
    Epilepsia 46:32-7. 2005
    ..2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21...
  64. ncbi A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Epilepsia 45:190-2. 2004
    ..1-2q12.2 (lod score value, 1.55). This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1-q12.2...
  65. ncbi Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy)
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    J Clin Neurophysiol 20:449-61. 2003
    ..They must be distinguished from other syndromes with frequent brief attacks and repeated falls, especially the Lennox-Gastaut syndrome. This differentiation is often difficult and may require extensive neurophysiologic studies...
  66. ncbi Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing
    Renzo Guerrini
    Neurosciences Unit, Great Ormond Street Hospital for Sick Children and Institute of Child Health, University College London, Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK
    Seizure 11:532-43; quiz 544-7. 2002
    ..2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk...
  67. ncbi Early-onset absence epilepsy and paroxysmal dyskinesia
    Renzo Guerrini
    Neurosciences Unit, Great Ormond Street Hospital for Sick Children and Institute of Child Health, University College London, London, England
    Epilepsia 43:1224-9. 2002
    ..To report on the association of childhood absence epilepsy and paroxysmal dyskinesia (PD)...
  68. ncbi Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex
    Akiyoshi Kakita
    Department of Pathology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951 8585, Japan
    Acta Neuropathol 104:649-57. 2002
    ..This case appears to represent an example of BPNH manifesting widespread developmental anomalies within the blood vessels and the cortical cytoarchitecture in the cerebrum...
  69. ncbi Rationale for treating epilepsy in children
    Renzo Guerrini
    Neurosciences Unit, Great Ormond Street Hospital for Children and Institute of Child Health, The Wolfson Centre, Mecklenburgh Square, London, WC1N 2AP, UK
    Epileptic Disord 4:S9-21. 2002
    ..Severe childhood epilepsies are particularly at risk and mild idiopathic epilepsies may be transformed into severe disorders, priming a vicious circle of heavy treatment, whereby the original disorder is no longer recognizable...
  70. ncbi Cognitive epilepsy: ADHD related to focal EEG discharges
    Nicole Laporte
    Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, , Brussels, Belgium
    Pediatr Neurol 27:307-11. 2002
    ..The classical principle of treating only seizures needs to be reconsidered...
  71. ncbi Subcortical band heterotopia with simplified gyral pattern and syndactyly
    Federico Sicca
    Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy
    Am J Med Genet A 119:207-10. 2003
    ..Chromosome studies and mutation analysis of the DCX and LIS1 genes gave negative results. This observation delineates a new multiple congenital abnormalities mental retardation syndrome and confirms genetic heterogeneity of SBH...
  72. ncbi Influence of dosage, age, and co-medication on plasma topiramate concentrations in children and adults with severe epilepsy and preliminary observations on correlations with clinical response
    Anna Rita Ferrari
    IRCCS Stella Maris Foundation, University of Pisa, Pisa, Italy
    Ther Drug Monit 25:700-8. 2003
    ..The marked increase in TPM clearance caused by enzyme-inducing co-medication was confirmed...
  73. ncbi Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:69-76. 2004
    ..Our findings show that vesicle trafficking is an important regulator of proliferation and migration during human cerebral cortical development...
  74. ncbi Treatment of myoclonic epilepsies in infancy and early childhood
    Raman Sankar
    Department of Neurology, David Geffen School of Medicine at UCLA and Mattel Children's Hospital at UCLA, Los Angeles, California, USA
    Adv Neurol 95:289-98. 2005
  75. ncbi Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood
    Marco T Medina
    National Autonomous University of Honduras, Tegucigalpa, Honduras
    Adv Neurol 95:307-23. 2005
  76. ncbi Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, USA
    Am J Med Genet A 140:2416-25. 2006
    ..Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11...
  77. ncbi Can we increase the likelihood of success for future association studies in epilepsy?
    Martina Durner
    Epilepsia 47:1617-21; author reply 1757-8. 2006
  78. ncbi Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
    Anna Caciotti
    AOU Meyer, Metabolic and Muscular Unit, Clinic of Pediatric Neurology, Florence, Italy
    Eur J Gastroenterol Hepatol 20:118-21. 2008
    ..Our paper aims at improving the clinical and molecular characterizations of these patients, to avoid dangerous misdiagnoses...
  79. ncbi Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data
    Behrouz Kassai
    INSERM, CIC201, EPICIM, Lyon, France
    Epilepsia 49:343-8. 2008
    ..The two RCTs identified, however, were performed with the same objectives and design and showed that seizure frequency is greatly reduced by stiripentol in children with SMEI after 2 months of treatment...
  80. ncbi Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree
    Elena Gardella
    Department of Neurosciences, Bellaria Hospital, Clinica Neurologica, Bologna, Italy
    Epilepsia 47:1643-9. 2006
    ..Exclusion of linkage to the two known loci is consistent with genetic heterogeneity of such familial clustering of symptoms...
  81. ncbi Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy
    Epilepsia 47:1737-40. 2006
    ..The possibility of mosaic mutations must, therefore, also be taken into account for genetic counseling and determining the recurrence risk in patients with SMEI...
  82. ncbi Neuropsychological findings in idiopathic occipital lobe epilepsies
    Anna Maria Chilosi
    Department of Developmental Neuroscience, Stella Maris Scientific Institute, University of Pisa, Pisa, Italy
    Epilepsia 47:76-8. 2006
    ..We reviewed the clinical charts of 22 patients (mean age 12 years) with idiopathic occipital lobe epilepsies (IOLE) to verify the presence of visuoperceptual difficulties...
  83. ncbi Linkage and association analysis of CACNG3 in childhood absence epilepsy
    Kate V Everett
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Eur J Hum Genet 15:463-72. 2007
    ..No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients...
  84. ncbi Genetics of epilepsy: epilepsy research foundation workshop report
    Sanjay Sisodiya
    Epilepsy Research Foundation, United Kingdom
    Epileptic Disord 9:194-236. 2007
    ..Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy...
  85. ncbi Genetic malformations of cortical development
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Via dei Giacinti 2, 56018, Calambrone, Pisa, Italy
    Exp Brain Res 173:322-33. 2006
    ..It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating cortical malformations to epilepsy remain elusive...
  86. ncbi Hypothalamic hamartomas and hedgehogs: not a laughing matter
    Samuel J Pleasure
    Neurology 70:588-9. 2008
  87. ncbi Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion
    Claudia Torniero
    Servizio Neuropsichiatria Infantile, Policlinico GB Rossi, Universita di Verona, Verona, Italy
    Eur J Hum Genet 16:880-7. 2008
    ..Abnormal development of the cerebral cortex, reported also in the Williams-Beuren deletion, suggests that at least one gene is present in the critical region whose deletion/duplication impairs neuronal migration...
  88. ncbi Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy
    Paolo Bonanni
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Italy
    Epilepsia 43:609-15. 2002
    ....
  89. ncbi Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    Maria Margherita Mancardi
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genova, Italy
    Epilepsia 47:1629-35. 2006
    ..We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder...
  90. ncbi Classification conundrums in paroxysmal dyskinesias: a new subtype or variations on classic themes?
    Michael H Pourfar
    Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA
    Mov Disord 20:1047-51. 2005
    ..We describe 4 cases that do not fit easily into the current classification scheme, compare them with four others recently described in the literature, and raise the question as to whether they constitute a new subtype...
  91. ncbi Topiramate monotherapy as broad-spectrum antiepileptic drug in a naturalistic clinical setting
    Renzo Guerrini
    Epilepsy, Neurophysiology, Neurogenetics Unit, INPE University of Pisa and IRCCS Stella Maris, Pisa, Via dei Giacinti 2, 56018 Pisa, Italy
    Seizure 14:371-80. 2005
    ..They also suggest that in a naturalistic setting, overall good retention on treatment and seizure freedom are observed at low doses in a broad spectrum of epilepsies...
  92. ncbi Reciprocal translocations: a trap for cytogenetists?
    Roberto Ciccone
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Hum Genet 117:571-82. 2005
    ..This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation...
  93. ncbi Practitioner review: use of antiepileptic drugs in children
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    J Child Psychol Psychiatry 47:115-26. 2006
    ..Optimal treatment first demands a correct recognition of the major type of seizures, followed by a correct diagnosis of the type of epilepsy or of the specific syndrome...
  94. ncbi Malformations of cortical development and epilepsy
    Richard J Leventer
    Children s Neuroscience Centre and Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
    Dialogues Clin Neurosci 10:47-62. 2008
    ..The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented...
  95. ncbi Valproate as a mainstay of therapy for pediatric epilepsy
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Pisa, Italy
    Paediatr Drugs 8:113-29. 2006
    ..Bodyweight increase and tremor may be observed in older children and adolescents. Despite the challenge of newer drugs, valproate remains a gold standard antiepileptic drug for the treatment of children...
  96. ncbi Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
    Paolo Aridon
    Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, Milan, Italy
    Am J Hum Genet 79:342-50. 2006
    ..Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere, CHRNA2 mutations cause a more complex and finalized ictal behavior...
  97. ncbi Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: an exploratory, placebo-controlled study
    Dorothée G A Kasteleijn Nolst Trenité
    University La Sapienza II, Via Vitorchiano 81, 00189 Roma, Italy
    Epilepsy Res 74:193-200. 2007
    ....