Marina Trivisano

Marina Trivisano

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Marina Trivisano

Marina Trivisano

Publications by authors named "Marina Trivisano"

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What are the epileptic encephalopathies?

Curr Opin Neurol 2020 Feb 7. Epub 2020 Feb 7.

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1097/WCO.0000000000000793DOI Listing
February 2020

The role of PCDH19 in refractory status epilepticus.

Epilepsy Behav 2019 Dec 31;101(Pt B):106539. Epub 2019 Oct 31.

Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.106539DOI Listing
December 2019

Red flags for neuronal ceroid lipofuscinosis type 2 disease.

Dev Med Child Neurol 2019 Nov 1. Epub 2019 Nov 1.

Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.14389DOI Listing
November 2019

POGZ-related epilepsy: Case report and review of the literature.

Am J Med Genet A 2019 Aug 28;179(8):1631-1636. Epub 2019 May 28.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61206
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http://dx.doi.org/10.1002/ajmg.a.61206DOI Listing
August 2019

Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy.

Paediatr Drugs 2019 Aug;21(4):283-290

Rare and Complex Epilepsy Unit, Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s40272-019-00341-xDOI Listing
August 2019

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy.

Epilepsy Behav 2019 Jul 4;96:219-223. Epub 2019 Jun 4.

Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.03.043DOI Listing
July 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

The phenotype of developmental and epileptic encephalopathy.

Neurology 2018 09 31;91(12):e1112-e1124. Epub 2018 Aug 31.

From the Department of Clinical Neurophysiology (E.G., S.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (E.G., K.M.J., R.S.M.), University of Southern Denmark, Odense, Denmark; Neuroscience Department (C.M., R.G., M.M.), Children's Hospital A. Meyer, University of Florence; Department of Neuroscience (M.T., N.S., F.V.), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Division of Neurology (M.P.F., I.H.), The Children's Hospital of Philadelphia; Departments of Pediatrics and Neurology (M.P.F., I.H.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Universitätskinderklinik Tübingen (M.A., M.W.), Germany; Department of Neurology (K.H.), Royal Children's Hospital Melbourne; Department of Paediatrics (K.H.), University of Melbourne; Australia Neurosciences Group (K.H.), Murdoch Children's Research Institute, Melbourne, Australia; Servizio di Neuropsichiatria Infantile (F.D., E.F.), Policlinico G.B. Rossi, Universita Degli Studi di Verona; Department of Child Neurology (S.S., G.A.), Ospedale Pediatrico G. Salesi-Ospedali Riuniti, Ancona, Italy; Division of Clinical Neurophysiology (B.B.), Children's Research Center, University Children's Hospital Zurich, Switzerland; Brain and Behaviour Department (S.M.), University of Pavia; Department of Pediatric Neuroradiology (A.P.), IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy; Department of Epilepsy Genetics (K.J., R.S.M.), Danish Epilepsy Centre Dianalund; Department of Child Neurology (B.J.), Danish Epilepsy Centre, Dianalund, Denmark; Cytogenetic and Molecular Genetic Laboratory (S.R., F.C.), Istituto Auxologico Italiano, IRCCS, Milano, Italy; Department of Adult Neurology (G.R.), Danish Epilepsy Centre, Dianalund; University of Copenhagen (G.R.), Denmark; Struttura Complessa di Neurologia Pediatrica Ospedale Vittore Buzzi (P.V.), Milano; Dipartimento di Scienze Biomediche e Cliniche L. Sacco (P.V.), Università di Milano, Italy; Århus University (S.B.), Denmark; Department of Child Neurology (I.E.S.), University of Melbourne, Austin Health, Florey Institute; and Department of Child Neurology (I.E.S.), The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006199DOI Listing
September 2018

CHD2-epilepsy: Polygraphic documentation of self-induced seizures due to fixation-off sensitivity.

Seizure 2018 Apr 3;57:8-10. Epub 2018 Mar 3.

Neurophysiology Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.02.010DOI Listing
April 2018

Focal cortical dysplasia in genetic epilepsy: new insights from PCDH19-related epilepsy.

Dev Med Child Neurol 2018 01 14;60(1):11-12. Epub 2017 Nov 14.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.13615DOI Listing
January 2018

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.

Epilepsia 2017 08 20;58(8):1380-1388. Epub 2017 Jun 20.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS (Istituto di Ricerca e Cura a Carattere Scientifico), Rome, Italy.

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http://dx.doi.org/10.1111/epi.13820DOI Listing
August 2017

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Epilepsia 2017 06 4;58(6):e91-e95. Epub 2017 May 4.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13772DOI Listing
June 2017

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Eur J Paediatr Neurol 2017 May 30;21(3):450-456. Epub 2016 Nov 30.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.005DOI Listing
May 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Clinical and genetic factors predicting Dravet syndrome in infants with mutations.

Neurology 2017 Mar 15;88(11):1037-1044. Epub 2017 Feb 15.

From the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384833PMC
March 2017

Intravenous lacosamide in seizure emergencies: Observations from a hospitalized in-patient adult population.

Seizure 2016 Nov 22;42:20-28. Epub 2016 Sep 22.

Epilepsy Centre - Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2016.09.004DOI Listing
November 2016

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

Epilepsy Res 2016 09 16;125:32-6. Epub 2016 Jun 16.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.05.015DOI Listing
September 2016

Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway.

Epilepsia 2016 08;57(8):1337-8

Department of Neuroscience, "Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13453DOI Listing
August 2016

PCDH19-related epilepsy in two mosaic male patients.

Epilepsia 2016 Mar 14;57(3):e51-5. Epub 2016 Jan 14.

Department of Neurosciences, Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13295DOI Listing
March 2016

Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome.

Epilepsy Behav 2015 Dec 8;53:112-6. Epub 2015 Nov 8.

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.10.009DOI Listing
December 2015

Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy.

Epileptic Disord 2015 Dec;17(4):384-96

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome.

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http://dx.doi.org/10.1684/epd.2015.0776DOI Listing
December 2015

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

Epilepsy Behav 2015 Oct 7;51:53-6. Epub 2015 Aug 7.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.06.029DOI Listing
October 2015

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.

Acta Neurol Belg 2015 Sep 10;115(3):233-9. Epub 2014 Oct 10.

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, P.za S. Onofrio, 4 00165, Rome, Italy,

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http://dx.doi.org/10.1007/s13760-014-0374-zDOI Listing
September 2015

Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy.

Eur J Paediatr Neurol 2015 Mar 29;19(2):248-50. Epub 2014 Nov 29.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.008DOI Listing
March 2015

Bilateral putaminal necrosis and bronopol toxicity.

BMJ Case Rep 2015 Feb 19;2015. Epub 2015 Feb 19.

Clinic of Nervous System Diseases, Ospedali Riuniti Foggia, University of Foggia, Foggia, Italy.

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http://dx.doi.org/10.1136/bcr-2014-206405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336879PMC
February 2015

Cognitive development in females with PCDH19 gene-related epilepsy.

Epilepsy Behav 2015 Jan 11;42:36-40. Epub 2014 Dec 11.

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2014.10.019DOI Listing
January 2015

Lacosamide in absence status epilepticus.

Seizure 2014 May 14;23(5):397-8. Epub 2013 Dec 14.

Epilepsy Center - Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2013.12.004DOI Listing
May 2014

Brain SPECT imaging of ictal smile seizure.

Clin Nucl Med 2013 May;38(5):e216-7

Department of Nuclear Medicine, University Hospital Ospedali Riuniti, Foggia, Italy.

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http://dx.doi.org/10.1097/RLU.0b013e3182387477DOI Listing
May 2013

Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia.

Am J Med Genet A 2013 May 25;161A(5):1194-5. Epub 2013 Mar 25.

Epilepsy Center-Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35859DOI Listing
May 2013

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Eur J Paediatr Neurol 2013 Jan 17;17(1):77-81. Epub 2012 Aug 17.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.07.006DOI Listing
January 2013

Epileptic encephalopathy.

Epilepsy Res Treat 2012 31;2012:460256. Epub 2012 Dec 31.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza S, Onforio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1155/2012/460256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549375PMC
January 2013

Epilepsy in ring 14 chromosome syndrome.

Epilepsy Behav 2012 Dec 14;25(4):585-92. Epub 2012 Nov 14.

Neurology Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2012.09.032DOI Listing
December 2012

Neonatal hemifacial spasm and fourth ventricle mass.

Dev Med Child Neurol 2012 Aug 30;54(8):697-703. Epub 2012 Apr 30.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04247.xDOI Listing
August 2012

Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients.

J Child Neurol 2012 Apr 21;27(4):439-44. Epub 2011 Oct 21.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1177/0883073811419262DOI Listing
April 2012

Ictal yawning in a patient with drug-resistant focal epilepsy: video/EEG documentation and review of literature reports.

Epilepsy Behav 2011 Nov 14;22(3):602-5. Epub 2011 Sep 14.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2011.08.013DOI Listing
November 2011

Migraine triggered by epileptic discharges in a Rasmussen's encephalitis patient after surgery.

Brain Dev 2011 Aug 23;33(7):597-600. Epub 2010 Oct 23.

Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.braindev.2010.09.014DOI Listing
August 2011

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Epilepsia 2011 Jul 11;52(7):1251-7. Epub 2011 Apr 11.

Neurology Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital-IRCCS, Piazza S. Onofrio 4, Rome, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03063.xDOI Listing
July 2011

Ictal video-polygraphic features of perioral myoclonia with absences.

Epilepsy Behav 2011 Jul 14;21(3):314-7. Epub 2011 May 14.

Epilepsy Center-Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2011.03.040DOI Listing
July 2011

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

Am J Med Genet A 2011 Apr 15;155A(4):911-4. Epub 2011 Mar 15.

Division of Neurology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33899DOI Listing
April 2011

Rolandic epilepsy: an uncommon presentation with leg motor seizures.

Epilepsia 2010 Dec 30;51(12):2488-91. Epub 2010 Sep 30.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02733.xDOI Listing
December 2010

Idiopathic West Syndrome followed by childhood absence epilepsy.

Seizure 2010 Nov 21;19(9):597-601. Epub 2010 Aug 21.

Division of Neurology, Bambino Gesù Children's Hospital IRCCS, Pza S Onofrio, 4 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.seizure.2010.07.016DOI Listing
November 2010

Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

Epilepsy Behav 2010 Nov 24;19(3):383-93. Epub 2010 Aug 24.

Division of Neurology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S152550501000468
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http://dx.doi.org/10.1016/j.yebeh.2010.06.046DOI Listing
November 2010

Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

Epilepsia 2010 Oct 21;51(10):2098-107. Epub 2010 Sep 21.

Division of Neurology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02639.xDOI Listing
October 2010

A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.

Acta Neurol Belg 2010 Sep;110(3):281-3

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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September 2010