R Guerrini

Summary

Affiliation: University of Pisa
Country: Italy

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint 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
  3. ncbi request reprint Topiramate and its clinical applications in epilepsy
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa, IRCCS Fondazione Stella Maris, 56018 Calambrone, Pisa, Italy
    Expert Opin Pharmacother 7:811-23. 2006
  4. doi request reprint 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
  5. pmc Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
    Barry A Chioza
    Institute of Child Health, University College London, London, UK
    Epilepsy Res 87:247-55. 2009
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint The genetic and molecular basis of epilepsy
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa 56018, Italy
    Trends Mol Med 9:300-6. 2003
  9. ncbi request reprint Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms
    Renzo Guerrini
    Epilepsy, Neurophysiology, and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Pisa, Italy
    Paediatr Drugs 5:647-61. 2003
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications77

  1. ncbi request reprint 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...
  2. ncbi request reprint 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...
  3. ncbi request reprint Topiramate and its clinical applications in epilepsy
    Renzo Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa, IRCCS Fondazione Stella Maris, 56018 Calambrone, Pisa, Italy
    Expert Opin Pharmacother 7:811-23. 2006
    ....
  4. doi request reprint 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...
  5. pmc Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
    Barry A Chioza
    Institute of Child Health, University College London, London, UK
    Epilepsy Res 87:247-55. 2009
    ..9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint The genetic and molecular basis of epilepsy
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa 56018, Italy
    Trends Mol Med 9:300-6. 2003
    ..Hopefully, in the near future, successful genetic studies will make possible the discovery of new and more-targeted anti-epileptic drugs...
  9. ncbi request reprint Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms
    Renzo Guerrini
    Epilepsy, Neurophysiology, and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Pisa, Italy
    Paediatr Drugs 5:647-61. 2003
    ..Where these treatment strategies are applied, individuals with AS may reach an appreciable level of integration, self care, and have a normal life span...
  10. ncbi request reprint 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...
  11. ncbi request reprint Epileptic syndromes and visually induced seizures
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Pisa, Italy
    Epilepsia 45:14-8. 2004
    ..Here we review the clinical characteristic of the different types of photic-induced seizures and the main epileptic syndromes that are characterized by visual sensitivity either as the sole manifestation or as an accessory feature...
  12. ncbi request reprint Epilepsy in children
    Renzo Guerrini
    Department of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, 56018 Calambrone, Pisa, Italy
    Lancet 367:499-524. 2006
    ..Epilepsy surgery is an important option for a few well-selected individuals, but should be considered with great caution when there is no apparent underlying brain lesion...
  13. ncbi request reprint 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...
  14. ncbi request reprint Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
    R Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018 Calambrone Pisa, Italy
    Neurology 63:51-6. 2004
    ..To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men...
  15. ncbi request reprint 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...
  16. ncbi request reprint 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...
  17. ncbi request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
    F Sicca
    Division of Child Neurology and Psychiatry, University of Pisa, Italy
    Neurology 61:1042-6. 2003
    ..The authors identified mosaic mutations of LIS1 in two patients (Patients 1 and 2) with predominantly posterior SBH...
  20. ncbi request reprint Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    R Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Italy
    Ann Neurol 45:344-52. 1999
    ..This report shows that idiopathic focal disorders such as epilepsy and dystonia, can be caused by the same genetic abnormality, may have a transient expression, and may be inherited as an autosomal recessive trait...
  21. ncbi request reprint Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
    E Parrini
    Research Institute, I R C C S, Stella Maris Foundation, University of Pisa, Italy
    Brain 129:1892-906. 2006
    ..Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05)...
  22. ncbi request reprint Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene
    F Moro
    Neurogenetics Laboratory, Division of Child Neurology and Psychiatry, University of Pisa, Italy
    Neurology 58:916-21. 2002
    ..To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM # 300049) in two families segregating a missense mutation and a C-terminal deletion of the filamin 1(FLN1) gene...
  23. ncbi request reprint Myoclonic status epilepticus following high-dosage lamotrigine therapy
    R Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Italy
    Brain Dev 21:420-4. 1999
    ..The striking response to drug discontinuation suggests that LTG may have played a role in the precipitation of status, possibly within the context of paradoxical intoxication...
  24. ncbi request reprint Reorganisation of the somatosensory system after early brain damage
    A Guzzetta
    Department of Developmental Neuroscience, Stella Maris Scientific Institute, Via dei Giacinti 2, 56018 Calambrone Pisa, Italy
    Clin Neurophysiol 118:1110-21. 2007
    ..To examine the reorganisation of the somatosensory system after early brain lesions...
  25. ncbi request reprint Periventricular heterotopia in fragile X syndrome
    F Moro
    IRCCS Fondazione Stella Maris, Pisa, Italy
    Neurology 67:713-5. 2006
    ..This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS...
  26. ncbi request reprint The costs of childhood epilepsy in Italy: comparative findings from three health care settings
    R Guerrini
    , Pisa, Italy
    Epilepsia 42:641-6. 2001
    ..The setting of health care plays a significant role in the variation of the costs, even for patients in the same category of epilepsy...
  27. ncbi request reprint 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
  28. ncbi request reprint Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance
    R Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Calambrone, IRCCS Stella Maris, Italy
    Brain Dev 20:116-8. 1998
    ....
  29. ncbi request reprint Epilepsy and malformations of the cerebral cortex
    R Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Italia
    Neurologia 14:32-47. 1999
    ..Planning of surgical treatment of the associated epilepsy must rely on careful evaluation of all these informations...
  30. ncbi request reprint 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...
  31. ncbi request reprint 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...
  32. ncbi request reprint Chromosomal disorders associated with epilepsy
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone, Pisa, Italy
    Epileptic Disord 7:181-92. 2005
    ..We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy...
  33. ncbi request reprint 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
    ....
  34. ncbi request reprint 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...
  35. ncbi request reprint 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
    ..The aim of the study was to identify possible electrophysiological specificities in patients who eventually develop ENM during CBZ treatment...
  36. ncbi request reprint 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
    ..To study the neurophysiologic characteristics of epileptic myoclonus in patients with Lennox-Gastaut syndrome (LGS) and myoclonic astatic epilepsy (MAE)...
  37. ncbi request reprint 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
    ..We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family...
  38. ncbi request reprint Resective surgery for epileptogenic dysembryoplastic neuroepithelial tumor in hemimegalencephaly
    N Specchio
    Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa, Italy
    Neurology 65:777-8. 2005
  39. ncbi request reprint Cortical reflex myoclonus in Rett syndrome
    R Guerrini
    Institute of Child Neurology and Psychiatry, University of Pisa, Italy
    Ann Neurol 43:472-9. 1998
    ..3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long-loop reflex...
  40. ncbi request reprint 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...
  41. ncbi request reprint 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
    ..Mutations of the alpha1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals...
  42. ncbi request reprint 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
    ....
  43. ncbi request reprint Pathophysiology of myoclonic epilepsies
    Renzo Guerrini
    Epilepsy, Neurophysiology, Neurogenetics Unit, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
    Adv Neurol 95:23-46. 2005
  44. ncbi request reprint 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...
  45. ncbi request reprint Similar increases in extracellular lactic acid in the limbic system during epileptic and/or olfactory stimulation
    F Fornai
    Department of Human Morphology and Applied Biology, University of Pisa, Pisa, Italy
    Neuroscience 97:447-58. 2000
    ....
  46. doi request reprint Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal loss
    Francesca Becherini
    Pathological Anatomy Section, Surgery Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Italy
    Dev Med Child Neurol 50:553-7. 2008
    ....
  47. ncbi request reprint 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)...
  48. pmc 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...
  49. ncbi request reprint 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...
  50. ncbi request reprint 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...
  51. ncbi request reprint 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
    ..Linkage analyses revealed two putative loci on chromosome 2p and 8q. Clinical photosensitivity was not a prominent feature in such families. We describe a large Italian family with rhythmic CM, photosensitivity, and epilepsy...
  52. ncbi request reprint 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)...
  53. ncbi request reprint 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
    ....
  54. ncbi request reprint 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...
  55. ncbi request reprint 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...
  56. ncbi request reprint 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...
  57. doi request reprint 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...
  58. pmc 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...
  59. ncbi request reprint 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...
  60. ncbi request reprint Can we increase the likelihood of success for future association studies in epilepsy?
    Martina Durner
    Epilepsia 47:1617-21; author reply 1757-8. 2006
  61. ncbi request reprint 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...
  62. ncbi request reprint History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseases
    Pierre Genton
    Centre Saint Paul, Hôpital Henri Gastaut, Marseille, France
    Adv Neurol 95:1-14. 2005
  63. ncbi request reprint 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...
  64. ncbi request reprint 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
    ..We recently characterized the glucocerebrosidase alleles of a patient with an unusual clinical presentation of type 3 Gaucher disease...
  65. ncbi request reprint 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...
  66. ncbi request reprint Pallister-Killian syndrome: an unusual cause of epileptic spasms
    Rocio Sanchez-Carpintero
    Great Ormond Street Hospital for Children NHS Trust, University College London, UK
    Dev Med Child Neurol 47:776-9. 2005
    ..In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES...
  67. ncbi request reprint 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
  68. ncbi request reprint 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...
  69. ncbi request reprint 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...
  70. ncbi request reprint 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...
  71. ncbi request reprint 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
    ....
  72. ncbi request reprint 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...
  73. ncbi request reprint 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...
  74. pmc 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...
  75. ncbi request reprint Cognitive epilepsy: ADHD related to focal EEG discharges
    Nicole Laporte
    Department of Pediatric Neurology, Cliniques Universitaires Saint Luc, Universite Catholique de Louvain, Brussels, Belgium
    Pediatr Neurol 27:307-11. 2002
    ..The classical principle of treating only seizures needs to be reconsidered...
  76. ncbi request reprint 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 request reprint Plasma gabapentin concentrations in children with epilepsy: influence of age, relationship with dosage, and preliminary observations on correlation with clinical response
    Giuliana Gatti
    Department of Internal Medicine and Therapeutics, University of Pavia, Italy
    Ther Drug Monit 25:54-60. 2003
    ..There seems to be a large variation in the plasma concentrations of the drug associated with a favorable therapeutic response...