Carla Marini

Summary

Affiliation: University of Pisa
Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  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. pmc PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
    Carla Marini
    Pediatric Neurology and Neurogenetics Unit and Laboratories, A Meyer Children s Hospital University of Florence, Florence, Italy
    Neurology 79:2109-14. 2012
  10. 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

Collaborators

Detail Information

Publications28

  1. 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...
  2. 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
    ....
  3. 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...
  4. 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...
  5. 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...
  6. 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
  7. 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...
  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. pmc PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
    Carla 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...
  10. 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
    ....
  11. 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
  12. ncbi request reprint Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
    Carla 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...
  13. ncbi request reprint Intracortical hyperexcitability in humans with a GABAA receptor mutation
    Marco 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...
  14. 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)...
  15. 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...
  16. doi request reprint Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore
    Jean Charles Hoda
    Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
    Mol Pharmacol 74:379-91. 2008
    ....
  17. 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...
  18. ncbi request reprint 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...
  19. 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...
  20. ncbi request reprint Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q
    Francesca Bisulli
    Neurological Institute, University of Bologna, Italy
    Epileptic Disord 4:183-7. 2002
    ....
  21. ncbi request reprint Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
    Carla 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...
  22. ncbi request reprint EEG in adult-onset idiopathic generalized epilepsy
    Suthida 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...
  23. ncbi request reprint Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance
    Carla 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...
  24. 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...
  25. ncbi request reprint 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
    ....
  26. ncbi request reprint Distinguishing sleep disorders from seizures: diagnosing bumps in the night
    Christopher 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...
  27. ncbi request reprint Antibody response in sheep experimentally infected with different small ruminant lentivirus genotypes
    Daniela 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...
  28. pmc Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy
    David N Bowser
    Department of Physiology, University of Melbourne, Victoria 3010, Australia
    Proc Natl Acad Sci U S A 99:15170-5. 2002
    ....