Carla Marini

Summary

Affiliation: University of Florence
Country: Italy

Publications

  1. ncbi request reprint Na(+) channelopathies and epilepsy: recent advances and new perspectives
    Carla Marini
    Child Neurology Unit, Pediatric Hospital A Meyer University of Firenze, Viale Pieraccini, Firenze, Italy
    Expert Rev Clin Pharmacol 3:371-84. 2010
  2. doi request reprint 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
  3. doi request reprint Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
    Valerio Conti
    Paediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Am J Med Genet A 155:892-7. 2011
  4. 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
  5. doi request reprint Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys
    Davide Mei
    Pediatric Neurology and Neurogenetics Unit and Laboratories, A Meyer Children s Hospital University of Florence, Florence, Italy
    Epilepsia 55:1748-53. 2014
  6. doi request reprint 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
  7. doi request reprint 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
  8. doi request reprint Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
    Valerio Conti
    Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Am J Med Genet A 155:164-7. 2011
  9. doi request reprint 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
  10. pmc 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

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Na(+) channelopathies and epilepsy: recent advances and new perspectives
    Carla Marini
    Child Neurology Unit, Pediatric Hospital A Meyer University of Firenze, Viale Pieraccini, Firenze, Italy
    Expert Rev Clin Pharmacol 3:371-84. 2010
    ..A better understanding of the genetic basis and of how gene defects cause seizures is mandatory to direct future research for newer selective and more efficacious treatments...
  2. doi request reprint 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...
  3. doi request reprint Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
    Valerio Conti
    Paediatric Neurology and Neurogenetics Unit and Laboratories, Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Am J Med Genet A 155:892-7. 2011
    ....
  4. 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...
  5. doi request reprint Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys
    Davide Mei
    Pediatric Neurology and Neurogenetics Unit and Laboratories, A Meyer Children s Hospital University of Florence, Florence, Italy
    Epilepsia 55:1748-53. 2014
    ..To date, 18 mutations have been described in boys. We analyzed our cohort of boys with early onset EE to assess the diagnostic yield of our molecular approach...
  6. doi request reprint 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...
  7. doi request reprint 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
    ....
  8. doi request reprint Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
    Valerio Conti
    Children s Hospital A Meyer, University of Florence, Firenze, Italy
    Am J Med Genet A 155:164-7. 2011
    ..Segregation studies revealed the c.441_464del also in two healthy relatives of one of the patients. This finding supports the hypothesis that this contraction represents a rare, benign polymorphism...
  9. doi request reprint 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...
  10. pmc 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...
  11. doi request reprint Early and effective treatment of KCNQ2 encephalopathy
    Tiziana Pisano
    Neurology Unit and Laboratories, A Meyer Children s Hospital, Florence, Italy
    Epilepsia 56:685-91. 2015
    ..To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life...
  12. pmc Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models
    Renzo Guerrini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Viale Pieraccini 24, 50139, Florence, Italy
    Neurotherapeutics 11:269-85. 2014
    ....
  13. doi request reprint Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
    Carla Marini
    Pediatric Neurology Unit, A Meyer Children s Hospital University of Florence, Florence, Italy
    Epilepsia 53:2111-9. 2012
    ..We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients...
  14. pmc Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy
    Tim T Chen
    Department of Neurology, Baylor College of Medicine, Houston, TX, USA
    Neurology 80:1078-85. 2013
    ....
  15. doi request reprint Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication
    Carla Marini
    Pediatric Neurology Unit and Laboratories, Pediatric Hospital A Meyer, Department of Clinical Pathophysiology, University of Florence, Florence, Italy
    Am J Med Genet A 161:1459-64. 2013
    ....