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Species | R GuerriniSummaryAffiliation: University of Pisa Country: Italy Publications
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Publications
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 responseAnna 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...- Practitioner review: use of antiepileptic drugs in childrenRenzo 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... - Topiramate and its clinical applications in epilepsyRenzo 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.... 
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformationTiziano 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...
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14Barry 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...- Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutationsRenzo 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... - Valproate as a mainstay of therapy for pediatric epilepsyRenzo 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... - The genetic and molecular basis of epilepsyRenzo 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... - Angelman syndrome: etiology, clinical features, diagnosis, and management of symptomsRenzo 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... - Epilepsy and malformations of the cerebral cortexRenzo 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... - Epileptic syndromes and visually induced seizuresRenzo 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... - Epilepsy in childrenRenzo 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... - 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... - Germline and mosaic mutations of FLN1 in men with periventricular heterotopiaR 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... - Topiramate monotherapy as broad-spectrum antiepileptic drug in a naturalistic clinical settingRenzo 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... - Neuronal migration disorders, genetics, and epileptogenesisRenzo 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... - Genetic malformations of the cerebral cortex and epilepsyRenzo 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... - Genetic malformations of cortical developmentRenzo 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... - Mosaic mutations of the LIS1 gene cause subcortical band heterotopiaF 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... - Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2R 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... - Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsE 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)... - Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 geneF 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... - Myoclonic status epilepticus following high-dosage lamotrigine therapyR 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... - Reorganisation of the somatosensory system after early brain damageA 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... - Periventricular heterotopia in fragile X syndromeF 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... - The costs of childhood epilepsy in Italy: comparative findings from three health care settingsR 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... - Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2Renzo 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 - Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritanceR Guerrini
Institute of Child Neurology and Psychiatry, University of Pisa, Calambrone, IRCCS Stella Maris, Italy
Brain Dev 20:116-8. 1998.... - Epilepsy and malformations of the cerebral cortexR 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... - Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopiaElena 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... - Neuropsychological findings in idiopathic occipital lobe epilepsiesAnna 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... - Chromosomal disorders associated with epilepsyAgatino 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... - The role of the nicotinic acetylcholine receptors in sleep-related epilepsyCarla Marini
Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Pisa, Italy
Biochem Pharmacol 74:1308-14. 2007.... - Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalitiesCarla 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... - Electrophysiological characterization of spontaneous and carbamazepine-induced epileptic negative myoclonus in benign childhood epilepsy with centro-temporal spikesLucio 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... - Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsyPaolo Bonanni
Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Italy
Epilepsia 43:609-15. 2002.... - Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutationTiziana 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... - Resective surgery for epileptogenic dysembryoplastic neuroepithelial tumor in hemimegalencephalyN Specchio
Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa, Italy
Neurology 65:777-8. 2005 - Cortical reflex myoclonus in Rett syndromeR 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... - Nonconvulsive status epilepticus precipitated by carbamazepine presenting as dissociative and affective disorders in adolescentsCarla 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... - Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancyCarla 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... - Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutationsPaolo 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... - Pathophysiology of myoclonic epilepsiesRenzo Guerrini
Epilepsy, Neurophysiology, Neurogenetics Unit, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
Adv Neurol 95:23-46. 2005 - Subcortical band heterotopia with simplified gyral pattern and syndactylyFederico 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... - Similar increases in extracellular lactic acid in the limbic system during epileptic and/or olfactory stimulationF Fornai
Department of Human Morphology and Applied Biology, University of Pisa, Pisa, Italy
Neuroscience 97:447-58. 2000.... - Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal lossFrancesca Becherini
Pathological Anatomy Section, Surgery Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Italy
Dev Med Child Neurol 50:553-7. 2008.... - Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale 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)... - Linkage and association analysis of CACNG3 in childhood absence epilepsyKate 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... - Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria 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... - Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortexAkiyoshi 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... - Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigreeElena 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... - Early-onset absence epilepsy and paroxysmal dyskinesiaRenzo 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)... - Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: an exploratory, placebo-controlled studyDorothée G A Kasteleijn Nolst Trenité
University La Sapienza II, Via Vitorchiano 81, 00189 Roma, Italy
Epilepsy Res 74:193-200. 2007.... - 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... - Linkage and mutational analysis of CLCN2 in childhood absence epilepsyKate 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... - Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsyFerdinanda 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... - Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment optionsRenzo 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... - Malformations of cortical development and epilepsyRichard 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... - Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria 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... - Can we increase the likelihood of success for future association studies in epilepsy?Martina Durner
Epilepsia 47:1617-21; author reply 1757-8. 2006 - Rationale for treating epilepsy in childrenRenzo 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... - History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseasesPierre Genton
Centre Saint-Paul, , Marseille, France
Adv Neurol 95:1-14. 2005 - 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... - 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... - Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel 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... - Pallister-Killian syndrome: an unusual cause of epileptic spasmsRocio 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... - Treatment of myoclonic epilepsies of childhood, adolescence, and adulthoodMarco T Medina
National Autonomous University of Honduras, Tegucigalpa, Honduras
Adv Neurol 95:307-23. 2005 - Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromesXianhua 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... - Periventricular nodular heterotopia with overlying polymicrogyriaGretchen 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... - A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2Pasquale 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... - Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Hum Mutat 23:147-59. 2004.... - Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortexVolney 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... - Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testingRenzo 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... - Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearPaolo 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... - Cognitive epilepsy: ADHD related to focal EEG dischargesNicole 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... - Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel 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... - Plasma gabapentin concentrations in children with epilepsy: influence of age, relationship with dosage, and preliminary observations on correlation with clinical responseGiuliana 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...