Research Topics
| Silvana FranceschettiSummaryAffiliation: Istituto Nazionale Neurologico Carlo Besta Country: Italy Publications
| Collaborators
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Detail Information
Publications
Na+-activated K+ current contributes to postexcitatory hyperpolarization in neocortical intrinsically bursting neuronsSilvana Franceschetti
National Neurological Institute C Besta, 20133 Milan and Department of Physiological and Pharmacological Sciences, University of Pavia, 27100 Pavia, Italy
J Neurophysiol 89:2101-11. 2003....
Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikesDaria Riva
Developmental Neurology Division, Istituto Nazionale Neurologico C Besta, Via Celoria 11, Milan, Italy
Epilepsy Behav 10:278-85. 2007....
Epileptogenic channelopathies: experimental models of human pathologiesGiuliano Avanzini
Department ofNeurophysiopathology, Istituto Neurologico C Besta, Milan, Italy
Epilepsia 48:51-64. 2007..These findings underscore the need for further studies to address the mechanisms involved in mutated-channel dysfunctions...
Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikesSara Bulgheroni
Developmental Neurology Division, Istituto Neurologico C Besta, Via Celoria 11, 20133 Milano, Italy
Epilepsy Res 79:31-8. 2008..The aim of this study was to assess the effect of interictal EEG discharges in the peri-sylvian regions on language lateralization in BECTS...
Functional MRI in malformations of cortical development: activation of dysplastic tissue and functional reorganizationPaolo Vitali
Department of Clinical Neurophysiology, University of Genova, Genova, Italy
J Neuroimaging 18:296-305. 2008..The aim of this work was to investigate cortical function in a heterogeneous group of patients with malformations of cortical development...
The neuropsychological pattern of Unverricht-Lundborg diseaseAnna R Giovagnoli
Neuropsychology Laboratory, C Besta National Neurological Institute, Milano, Italy
Epilepsy Res 84:217-23. 2009..To conclude, ULD is characterised by impaired processing and execution functions. This impairment is a strong independent predictor of ULD and may contribute to the characterisation of the diagnosis...
Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypesDaria Riva
Developmental Neurology Unit, C Besta Foundation Neurological Institute, Milan, Italy
Am J Med Genet A 149:2339-45. 2009..Our observations are consistent with the hypothesis that SCN1A-mutations can be responsible not only for epilepsy, but also for early and progressive severe mental impairment...
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic dischargesGiorgio Battaglia
Division of Experimental Neurophysiology and Epileptology, Neurological Institute C Besta, Milan, Italy
Epilepsia 47:86-97. 2006....
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizuresMassimo Mantegazza
Department of Neurophysiopathogy, Istituto Neurologico C Besta, Milan, Italy
Proc Natl Acad Sci U S A 102:18177-82. 2005..Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy...
Electroencephalographic recordings of focal seizures in patients affected by periventricular nodular heterotopia: role of the heterotopic nodules in the genesis of epileptic dischargesGiorgio Battaglia
Division of Experimental Neurophysiology and Epileptology, Neurological Institute C Besta, Milan, Italy
J Child Neurol 20:369-77. 2005..The major role of heterotopic neurons in the genesis and propagation of epileptic discharges must be taken into account when planning surgery for epilepsy in patients with periventricular nodular heterotopia...
Molecular biology of channelopathies: impact on diagnosis and treatmentGiuliano Avanzini
Istituto Nazionale Neurologico C Besta, Via Celoria 11, 20133 Milan, Italy
Expert Rev Neurother 4:519-39. 2004....
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body diseaseLaura Canafoglia
Dept of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy
Epilepsy Res 89:232-7. 2010..These findings are probably related to the high epileptogenic propensity characterizing LBD with respect to ULD and to the more severely distorted neuronal network resulting from the pathogenesis of LBD...
Characterization of severe action myoclonus in sialidosesLaura Canafoglia
Dept of Neurophysiopathology, IRCCS Foundation Carlo Besta Neurological Institute, Milano, Italy
Epilepsy Res 94:86-93. 2011..Neurophysiological indexes indicating high EEG-EMG synchronization parallels the severity of the myoclonus...
Prospects for novel antiepileptic drugsGiuliano Avanzini
Istituto Nazionale Neurologico C Besta, Via Celoria 11, I 20133, Milano, Italy
Curr Opin Investig Drugs 4:805-14. 2003....
Cellular biology of epileptogenesisGiuliano Avanzini
Istituto Nazionale Neurologico C Besta, Milan, Italy
Lancet Neurol 2:33-42. 2003..better understanding of the role of these epileptogenic mechanisms will promote new advances in the development of selective and targeted antiepileptic drugs...
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progressionSilvana Franceschetti
Division of Neurophysiology and Epileptology, Neurological Institute C Besta via Caloria 11, 20133 Milan, Milan, Italy
Neurobiol Dis 25:675-85. 2007..Furthermore, a greater degree of neuronal damage was observed in CSTB-deficient than in WT mice after seizures of identical grade, indicating increased susceptibility to seizure-induced cell death...
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsyJacopo C DiFrancesco
Dipartimento di Neuroscienze e Tecnologie Biomediche, Ospedale S Gerardo, Universita di Milano Bicocca, 20052 Monza, Italy
J Neurosci 31:17327-37. 2011..This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance...
A pilot study of a ketogenic diet in patients with Lafora body diseaseSimonetta Cardinali
Department of Child Neuropsychiatry, Child EEG Unit, Foundation C. Mondino Institute of Neurology Via Mondino 2, 27100 Pavia, Italy
Epilepsy Res 69:129-34. 2006..The application of this nutritional approach should be further evaluated in larger case series...
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutationEleonora Colosimo
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Epilepsia 48:1691-6. 2007..We showed that the mutation is associated with a loss of SCN1A function...
Rhythmic cortical myoclonus in a case of HIV-related encephalopathyLaura Canafoglia
Department of Clinical Neurophysiology; Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
Mov Disord 18:1533-8. 2003....
Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2BElayne M Chan
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
Adv Neurol 95:47-57. 2005
Periodic electroencephalogram complexes in a patient with variant Creutzfeldt-Jakob diseaseSimona Binelli
National Neurological Institute Carlo Besta, Milan, Italy
Ann Neurol 59:423-7. 2006..INTERPRETATION: In the light of our finding, the diagnostic criteria for vCJD should be amended to include the possibility of a typical periodic EEG in advanced stages of disease in cases with long survival...
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti
Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy
Epilepsia 47:640-3. 2006..Additional clinical and functional studies will clarify whether specific mutations may influence the course of the disease in LD patients...
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channelSandrine Cestele
Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy
J Neurosci 28:7273-83. 2008..Thus, we found a possible difference in the functional effects of FHM and familial epilepsy mutations of Nav1.1...
Rhythmic cortical myoclonus in Niemann-Pick disease type CLaura Canafoglia
Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan, Italy
Mov Disord 21:1453-6. 2006..EEG-EMG frequency analysis (better than jerk-locked back-averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC...
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemiaMassimo Mastrangelo
Pediatric Neurology Unit, V Buzzi Hospital, A O ICP, Milan, Italy
J Child Neurol 23:321-4. 2008..Observation of this case suggests that rhythmic cortical myoclonus may represent a late evolution of this rare disorder...
Activity-dependent phosphorylation of Ser187 is required for SNAP-25-negative modulation of neuronal voltage-gated calcium channelsDavide Pozzi
Department of Medical Pharmacology and Consiglio Nazionale delle Ricerche Institute of Neuroscience, University of Milano, Via Vanvitelli 32, 20129 Milan, Italy
Proc Natl Acad Sci U S A 105:323-8. 2008....
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutantRaffaella Rusconi
Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy
J Neurosci 27:11037-46. 2007..Interacting drugs may be used to rescue the mutant in vivo...
Verbal and gestural communication in children with bilateral perisylvian polymicrogyriaVeronica Saletti
Developmental Neurology Division, Istituto Nazionale Neurologico, Besta, Milano, Italy
J Child Neurol 22:1090-8. 2007....
ICTAL EEG fast activity in West syndrome: from onset to outcomeFerruccio Panzica
C Besta Foundation Neurological Institute, Via Celoria 11, Milan, Italy
Epilepsia 48:2101-10. 2007..To characterize the fast EEG activities associated with infantile spasms in West syndrome, and their value in predicting the recurrence and localization of late seizures...
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizuresPaolo Scalmani
Department of Neurophysiopathology, Istituto Neurologico C Besta, 20133 Milan, Italy
J Neurosci 26:10100-9. 2006..Thus, the pathogenic mechanism of BFNIS mutations is neuronal hyperexcitability caused by increased Na+ current...
Block of glutamate-glutamine cycle between astrocytes and neurons inhibits epileptiform activity in hippocampusAlberto Bacci
Consiglio Nazionale delle Ricerche Institute of Neuroscience, Cellular and Molecular Pharmacology, Department of Medical Pharmacology, 20129 Milano, Italy
J Neurophysiol 88:2302-10. 2002..These data point to an important role for the neuron-astrocyte metabolic interaction in sustaining episodes of intense rhythmic activity in the CNS, and thereby reveal a new potential target for antiepileptic treatments...
Immunotherapy responsive startle with antibodies to voltage gated potassium channelsCarlo Antozzi
J Neurol Neurosurg Psychiatry 78:1281-90. 2007
