Publications by authors named "Silvana Franceschetti"

100Publications

Relevance of neurophysiological assessment in a case of epilepsia partialis continua caused by anaplastic large cell lymphoma.

Clin Neurophysiol 2021 Jan 23;132(1):165-166. Epub 2020 Nov 23.

Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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January 2021

The COVID-19 outbreak and approaches to performing EEG in Europe.

Epileptic Disord 2020 Oct;22(5):548-554

Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE Lyon, France, Epilepsy Unit, San Juan de Dios Children's Hospital, Member of the ERN EpiCARE, Universitat de Barcelona, Barcelona, Spain.

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October 2020

Interrater agreement of classification of photoparoxysmal electroencephalographic response.

Epilepsia 2020 09 19;61(9):e124-e128. Epub 2020 Sep 19.

Department of Pediatric Clinical Epileptology, Sleep Disorders, and Functional Neurology, University Hospitals of Lyon, Lyon, France.

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September 2020

Towards the Automatic Localization of the Irritative Zone Through Magnetic Source Imaging.

Brain Topogr 2020 09 7;33(5):651-663. Epub 2020 Aug 7.

Department of Neurophysiology and Diagnostic Epileptology, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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September 2020

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome.

Clin Neurophysiol 2019 12 24;130(12):2231-2237. Epub 2019 Oct 24.

Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy.

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December 2019

Gamma electroencephalographic coherence and theory of mind in healthy subjects.

Epilepsy Behav 2019 11 17;100(Pt B):106435. Epub 2019 Aug 17.

Unit of Neurology and Neuropathology, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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November 2019

Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.

Epilepsy Behav 2019 09 13;98(Pt A):273-278. Epub 2019 Aug 13.

Neurofisiopatologia ed Epilettologia Diagnostica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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September 2019

Higher order spectral analysis of scalp EEG activity reveals non-linear behavior during rhythmic visual stimulation.

J Neural Eng 2019 09 17;16(5):056028. Epub 2019 Sep 17.

Department of Electronics, Information and Bioengineering, Politecnico di Milano, Milan, Italy.

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September 2019

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Acta Neurol Scand 2019 Sep 6;140(3):184-193. Epub 2019 Jun 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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September 2019

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Seizure 2019 Feb 8;65:106-108. Epub 2019 Jan 8.

Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.

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February 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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August 2018

Transcutaneous vagal nerve stimulatio (t-VNS): An adjunctive treatment option for refractory epilepsy.

Seizure 2018 Aug 18;60:115-119. Epub 2018 Jun 18.

Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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August 2018

Usefulness of EEG-EMG coherence analysis to confirm epileptic nature of spells mimicking hemifacial spasms.

Clin Neurophysiol 2018 08 8;129(8):1649-1650. Epub 2018 Jun 8.

Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy; Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy. Electronic address:

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August 2018

A response to: "Sleep and circadian rhythms in severely brain-injured patients - A comment".

Clin Neurophysiol 2018 08 8;129(8):1788. Epub 2018 May 8.

Neurophysiopathology Department and Epilepsy Centre, Neurological Institute "Carlo Besta", IRCCS Foundation, Milan, Italy.

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August 2018

Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1.

Epilepsy Behav 2018 03 3;80:33-36. Epub 2018 Feb 3.

Neurophysiopathology and Epilepsy Centre Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy. Electronic address:

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March 2018

Sleep patterns associated with the severity of impairment in a large cohort of patients with chronic disorders of consciousness.

Clin Neurophysiol 2018 03 24;129(3):687-693. Epub 2017 Dec 24.

Neurophysiopathology Department and Epilepsy Centre, Neurological Institute "Carlo Besta", IRCCS Foundation, Milan, Italy.

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March 2018

Period3 gene in disorder of consciousness: The role of neuroimaging in understanding the relationship between genotype and sleep. A brief communication.

J Neurol Sci 2017 Oct 30;381:220-225. Epub 2017 Aug 30.

Laboratory of Cellular Neurobiology, Cerebrovascular Disease Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy; Cerebrovascular Disease Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy.

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October 2017

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

Neurology 2017 Oct 20;89(16):1691-1697. Epub 2017 Sep 20.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., C.T., F.P., S.F.) and Pediatric Neurology (T.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; Department of Medical and Surgical Sciences (E.F., A.G., U.A.), Magna Graecia University, Catanzaro; Regional Epilepsy Centre (E.F., U.A.), Bianchi-Melacrino-Morelli Hospital, Reggio Calabria; Unit of Neurology (R.M., E.P., P.R.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Neuroscience and Epilepsy Centre (A.M.), G. Martino Policlinico AOU, University of Messina; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Department of Neurology (V.B.), S. Anna Hospital, Como; Department of Neurology and Psychiatry (M.F.), Neurology Unit, Sapienza University, Rome; Epilepsy Center (F.B.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; and Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo, Italy.

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October 2017

Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study.

Epilepsy Behav 2017 09 17;74:69-72. Epub 2017 Jul 17.

Institute of Molecular Bioimaging and Physiology of the National Research Council (IBFM-CNR), Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy. Electronic address:

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September 2017

Post-translational dysfunctions in channelopathies of the nervous system.

Neuropharmacology 2018 04 29;132:31-42. Epub 2017 May 29.

Institute of Molecular and Cellular Pharmacology (IPMC), CNRS UMR7275, 06560, Valbonne-Sophia Antipolis, France; University Côte d'Azur (UCA), 06560, Valbonne-Sophia Antipolis, France. Electronic address:

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April 2018

The impact of genetic and experimental studies on classification and therapy of the epilepsies.

Neurosci Lett 2018 02 15;667:17-26. Epub 2017 May 15.

Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.

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February 2018

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Seizure 2017 Apr 6;47:71-73. Epub 2017 Mar 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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April 2017

Movement-activated cortical myoclonus in Dravet syndrome.

Epilepsy Res 2017 02 19;130:47-52. Epub 2017 Jan 19.

Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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February 2017

The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.

BMC Neurol 2016 Nov 7;16(1):214. Epub 2016 Nov 7.

Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.

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November 2016

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Epileptic Disord 2016 Sep;18(S2):11-27

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

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September 2016

Sialidoses.

Epileptic Disord 2016 Sep;18(S2):89-93

Fondazione I.R.C.C.S., Istituto Neurologico Carlo Besta, Milan, Italy.

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September 2016

Ranolazine vs phenytoin: greater effect of ranolazine on the transient Na(+) current than on the persistent Na(+) current in central neurons.

Neuropharmacology 2016 11 19;110(Pt A):223-236. Epub 2016 Jul 19.

Institute of Molecular and Cellular Pharmacology (IPMC), CNRS UMR7275, 06560, Valbonne-Sophia Antipolis, France; University of the Côte d'Azur (UCA), 06560, Valbonne-Sophia Antipolis, France; Inserm, 06560, Valbonne-Sophia Antipolis, France. Electronic address:

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November 2016

Progressive myoclonus epilepsy associated with SACS gene mutations.

Neurol Genet 2016 Aug 23;2(4):e83. Epub 2016 Jun 23.

Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.

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August 2016

Altered EEG resting-state effective connectivity in drug-naïve childhood absence epilepsy.

Clin Neurophysiol 2016 Feb 25;127(2):1130-1137. Epub 2015 Sep 25.

Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy. Electronic address:

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February 2016

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Neurology 2015 Jul 26;85(4):316-24. Epub 2015 Jun 26.

From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.

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July 2015

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.

Neurobiol Dis 2015 Mar 6;75:100-14. Epub 2015 Jan 6.

Institute of Molecular and Cellular Pharmacology (IPMC), LabEx ICST, CNRS UMR7275 and University of Nice-Sophia Antipolis, 06560 Valbonne, France. Electronic address:

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March 2015

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

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December 2014

Self-rated and assessed cognitive functions in epilepsy: impact on quality of life.

Epilepsy Res 2014 Oct 6;108(8):1461-8. Epub 2014 Jul 6.

Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.

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October 2014

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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June 2014

EEG-EMG information flow in movement-activated myoclonus in patients with Unverricht-Lundborg disease.

Clin Neurophysiol 2014 Sep 20;125(9):1803-8. Epub 2014 Jan 20.

Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.

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September 2014

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Neurology 2014 Feb 2;82(5):405-11. Epub 2014 Jan 2.

From the Department of Neurophysiopathology and Epilepsy Centre (S.F., L.C., E.V., F.P., G.A.), IRCCS Foundation C. Besta Neurological Institute, Milan; Unit of Neurology (R.M.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Epilepsy Centre (A.M.), Department of Neuroscience, University of Messina; IRCCS Institute of Neurological Sciences and Department of Biomedical and Neuromotor Sciences (P.T.), University of Bologna; Epilepsy Centre (A.L.N.), Azienda Ospedaliero Universitaria Consorziale, Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Policlinico, Bari; Child Neurology Unit (G.G.), IRCCS delle Scienze Neurologiche, Bologna; Department of Neurology and Psychiatry (A.T.G.), Neurology Unit, La Sapienza University, Rome; Epilepsy Center (G.C.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; University of Bologna (C.A.T.); Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo; and Istituto Gaslini (F.Z.), Laboratory of Neurogenetics, Genoa, Italy. Coinvestigators are listed on the Neurology® Web site at www.neurology.org.

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February 2014

Identification of the Epileptogenic Zone from Stereo-EEG Signals: A Connectivity-Graph Theory Approach.

Front Neurol 2013 Nov 6;4:175. Epub 2013 Nov 6.

Neurophysiology and Diagnostic Epileptology Operative Unit, "C. Besta" Neurological Institute IRCCS Foundation , Milan , Italy.

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November 2013

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.

Proc Natl Acad Sci U S A 2013 Oct 7;110(43):17546-51. Epub 2013 Oct 7.

Institute of Molecular and Cellular Pharmacology, Laboratoire d'Excellence Canaux Ioniques d'Intérêt Thérapeutique, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7275, and University of Nice Sophia Antipolis, 06560 Valbonne, France.

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October 2013

Investigating higher-order cognitive functions in temporal lobe epilepsy: cognitive estimation.

Epilepsy Behav 2013 Nov 5;29(2):330-6. Epub 2013 Sep 5.

Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.

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November 2013

Altered resting state effective connectivity in long-standing vegetative state patients: an EEG study.

Clin Neurophysiol 2014 Jan 6;125(1):63-8. Epub 2013 Aug 6.

Dept. of Neurophysiology and Diagnostic Epileptology, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy. Electronic address:

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January 2014

Theory of mind and epilepsy: what clinical implications?

Epilepsia 2013 Sep 28;54(9):1639-46. Epub 2013 Jun 28.

Laboratory of Cognitive Neurology and Rehabilitation, Unit of Neurology and Neuropathology, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.

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September 2013

Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome.

Epilepsia 2013 Jul 10;54(7):1251-61. Epub 2013 May 10.

Institute of Molecular and Cellular Pharmacology, CNRS UMR7275, University of Nice-Sophia Antipolis, Valbonne, France.

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July 2013

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Epilepsia 2013 May 8;54(5):927-35. Epub 2013 Feb 8.

Institute of Molecular and Cellular Pharmacology, LabEx ICST, CNRS UMR7275, University of Nice-Sophia Antipolis, Valbonne, France.

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May 2013

Phenytoin inhibits the persistent sodium current in neocortical neurons by modifying its inactivation properties.

PLoS One 2013 29;8(1):e55329. Epub 2013 Jan 29.

Department of Neurophysiopathology, Epilepsy Center, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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July 2013

EEG-informed fMRI analysis during a hand grip task.

Annu Int Conf IEEE Eng Med Biol Soc 2012 ;2012:4712-5

Department of Bioengineering, Politecnico di Milano, Milan, Italy.

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July 2013

Congenital brain damage: cognitive development correlates with lesion and electroencephalographic features.

J Child Neurol 2013 Apr 29;28(4):446-54. Epub 2012 Jun 29.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico C. Besta, via Celoria, Milano, Italy.

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April 2013

Loss of cortical GABA terminals in Unverricht-Lundborg disease.

Neurobiol Dis 2012 Aug 17;47(2):216-24. Epub 2012 Apr 17.

Department of Clinical and Experimental Medicine, University of Ferrara, Ferrara, Italy.

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August 2012

Epileptogenic networks of type II focal cortical dysplasia: a stereo-EEG study.

Neuroimage 2012 Jul 6;61(3):591-8. Epub 2012 Apr 6.

Neurophysiology and Diagnostic Epileptology Unit, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.

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July 2012

Cortical myoclonus in childhood and juvenile onset Huntington's disease.

Parkinsonism Relat Disord 2012 Jul 10;18(6):794-7. Epub 2012 Apr 10.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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July 2012

Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.

Dev Med Child Neurol 2012 Apr 28;54(4):334-8. Epub 2012 Jan 28.

UO Neuropsichiatria Infantile Fondazione, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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April 2012

Functioning and disability in persons with epilepsy.

Am J Phys Med Rehabil 2012 Feb;91(13 Suppl 1):S22-30

Public Health and Disability Unit, Scientific Directorate, Division of Clinical Neurophysiology, Neurological Institute Carlo Besta, IRCCS Foundation, Milan, Italy.

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February 2012

Enhanced frontocentral EEG connectivity in photosensitive generalized epilepsies: a partial directed coherence study.

Epilepsia 2012 Feb 22;53(2):359-67. Epub 2011 Dec 22.

Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.

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February 2012

Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.

Epilepsia 2012 Jan 9;53(1):87-100. Epub 2011 Dec 9.

Department of Neurophysiopathology, Besta Foundation Neurological Institute, Milan, Italy.

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January 2012