Affiliation: University of Pisa
- 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...
- 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....
- 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..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...
- 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..We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family...
- 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...
- 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...
- 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...
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraineCarla Marini
Pediatric Neurology and Neurogenetics Unit and Laboratories, A Meyer Children s Hospital University of Florence, Florence, Italy
Neurology 79:2109-14. 2012..We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms...
- 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
- 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....
- Can we increase the likelihood of success for future association studies in epilepsy?Martina Durner
Epilepsia 47:1617-21; author reply 1757-8. 2006
- Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex familiesCarla Marini
Epilepsy Research Institute, Department of Medicine Neurology The University of Melbourne, Austin Health, Victoria, Australia
Epilepsia 45:467-78. 2004..We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance...
- Intracortical hyperexcitability in humans with a GABAA receptor mutationMarco Fedi
Department of Medicine, The University of Melbourne, Heidelberg, Victoria, Australia
Cereb Cortex 18:664-9. 2008..These findings are also likely to represent an important clue to the mechanisms linking this gene defect and the epilepsy phenotype...
- 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)...
- 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...
- Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel poreJean Charles Hoda
Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
Mol Pharmacol 74:379-91. 2008....
- 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..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...
- Genetics of epilepsy: epilepsy research foundation workshop reportSanjay 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...
- 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...
- Partial epilepsy with prominent auditory symptoms not linked to chromosome 10qFrancesca Bisulli
Neurological Institute, University of Bologna, Italy
Epileptic Disord 4:183-7. 2002....
- Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutationCarla Marini
Epilepsy Research Institute, The University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Victoria, Australia
Brain 126:230-40. 2003..Linkage analysis for a putative second gene contributing to the CAE phenotype suggested possible loci on chromosomes 10, 13, 14 and 15. Examination of these loci in other absence pedigrees is warranted...
- EEG in adult-onset idiopathic generalized epilepsySuthida Yenjun
Epilepsy Research Institute and Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Melbourne, Australia
Epilepsia 44:252-6. 2003..In this study, we looked for the differences in the EEG findings of IGE of classic adolescent onset versus adult onset that may suggest syndromic heterogeneity...
- Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritanceCarla Marini
Epilepsy Research Institute, Department of Medicine Neurology Austin and Repatriation Medical Centre, The University of Melbourne Department of Neurology, Royal Children s Hospital, Melbourne, Australia
Epilepsia 44:1250-4. 2003..Little is known about offspring of parents who both have idiopathic generalized epilepsy (IGE). This is of importance for understanding the complex genetic architecture of IGE...
- 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...
- Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?Isabella Taylor
Epilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, The University of Melbourne, Banksia Street, West Heidelberg, Victoria, 3081 Australia
Brain 127:1878-86. 2004....
- Distinguishing sleep disorders from seizures: diagnosing bumps in the nightChristopher Paul Derry
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia
Arch Neurol 63:705-9. 2006..In nocturnal frontal lobe epilepsy (NFLE), the unusual seizure features often lead to diagnostic confusion with nonepileptic parasomnias; video-electroencephalography monitoring is usually required to make the diagnosis...
- Antibody response in sheep experimentally infected with different small ruminant lentivirus genotypesDaniela Lacerenza
Dipartimento di Produzioni Animali, Epidemiologia ed Ecologia, Facolta di Medicina Veterinaria, Universita di Torino, 10095 Grugliasco, Italy
Vet Immunol Immunopathol 112:264-71. 2006..This study highlights the relative insensitivity of gag encoded cross-reacting epitopes during the early stage of infection and suggests the development of novel diagnostic tests based on both genotype specific antigens...
- Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsyDavid N Bowser
Department of Physiology, University of Melbourne, Victoria 3010, Australia
Proc Natl Acad Sci U S A 99:15170-5. 2002....