Publications by authors named "Nicola Specchio"

100Publications

An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.

Epilepsy Behav 2020 Aug 31;112:107376. Epub 2020 Aug 31.

APHP, Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, Université de Paris, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine institute, Université de Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2020.107376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457939PMC
August 2020

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex.

Front Neurol 2020 11;11:639. Epub 2020 Aug 11.

Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.

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http://dx.doi.org/10.3389/fneur.2020.00639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431762PMC
August 2020

Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians.

J Child Neurol 2020 Jul 15:883073820940189. Epub 2020 Jul 15.

Department of Pediatrics (Pediatric Neurology), Michigan Medicine, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1177/0883073820940189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364331PMC
July 2020

Refractory Status Epilepticus in Genetic Epilepsy-Is Vagus Nerve Stimulation an Option?

Front Neurol 2020 12;11:443. Epub 2020 Jun 12.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.

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http://dx.doi.org/10.3389/fneur.2020.00443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303322PMC
June 2020

Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.

Cereb Cortex 2020 Jun 25. Epub 2020 Jun 25.

Child Neurology Unit and Laboratories, Neuroscience Department, Children's Hospital A. Meyer - University of Florence, 50139 Florence, Italy.

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http://dx.doi.org/10.1093/cercor/bhaa177DOI Listing
June 2020

Epileptogenic Network Formation.

Neurosurg Clin N Am 2020 Jul;31(3):335-344

Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, 4, Piazza Sant'Onofrio, Rome 00165, Italy.

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http://dx.doi.org/10.1016/j.nec.2020.03.012DOI Listing
July 2020

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.

Epilepsy Behav 2020 Jul 11;108:107097. Epub 2020 May 11.

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Member of European Reference Network EpiCARE. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2020.107097DOI Listing
July 2020

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome.

Dev Med Child Neurol 2020 Aug 5;62(8):897-905. Epub 2020 May 5.

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

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http://dx.doi.org/10.1111/dmcn.14553DOI Listing
August 2020

Treatment of infantile spasms: why do we know so little?

Expert Rev Neurother 2020 Jun 19;20(6):551-566. Epub 2020 Jun 19.

Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University , 00133, Rome, Italy.

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http://dx.doi.org/10.1080/14737175.2020.1759423DOI Listing
June 2020

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy.

Ther Clin Risk Manag 2020 30;16:213-222. Epub 2020 Mar 30.

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

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http://dx.doi.org/10.2147/TCRM.S241048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127909PMC
March 2020

Reply to Dr. Capovilla on "Reply to the article "Management of status epilepticus in adults. Position paper of the Italian League Against Epilepsy".

Epilepsy Behav 2020 Jun 6;107:107048. Epub 2020 Apr 6.

IRCCS Istituto delle Scienze Neurologiche, Bellaria Hospital, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2020.107048DOI Listing
June 2020

Successful use of fenfluramine in nonconvulsive status epilepticus of Dravet syndrome.

Epilepsia 2020 Apr 13;61(4):831-833. Epub 2020 Mar 13.

Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.

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http://dx.doi.org/10.1111/epi.16474DOI Listing
April 2020

Epilepsy and cannabidiol: a guide to treatment.

Epileptic Disord 2020 02;22(1):1-14

Paediatric Epilepsy Dpt., University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, and Inserm U1028 / CNRS UMR5292, Lyon, France

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http://dx.doi.org/10.1684/epd.2020.1141DOI Listing
February 2020

Management of epileptic seizures in school-age children: Educational project dedicated to school staff.

Epilepsy Behav 2020 Apr 18;105:106951. Epub 2020 Feb 18.

Department of Neurosciences and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2020.106951DOI Listing
April 2020

What are the epileptic encephalopathies?

Curr Opin Neurol 2020 04;33(2):179-184

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
April 2020

Source of cannabinoids: what is available, what is used, and where does it come from?

Epileptic Disord 2020 Jan;22(S1):1-9

UCL-Institute of Child Health, Great Ormond Street Hospital for Children, Member of the European Reference Network EpiCARE, London & Young Epilepsy, Lingfield, UK.

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http://dx.doi.org/10.1684/epd.2019.1121DOI Listing
January 2020

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy.

Epilepsy Behav 2020 01 22;102:106675. Epub 2019 Nov 22.

IRCCS Istituto delle Scienze Neurologiche, Bellaria Hospital, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.106675DOI Listing
January 2020

The role of PCDH19 in refractory status epilepticus.

Epilepsy Behav 2019 12 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 2020 04 1;62(4):414. 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
April 2020

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 07 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

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

Am J Med Genet A 2019 08 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

Berardinelli-Seip syndrome and progressive myoclonus epilepsy.

Epileptic Disord 2019 Feb;21(1):117-121

Child Neurology and Psychiatry Unit, "Regina Montis Regalis" Hospital, Mondovì.

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http://dx.doi.org/10.1684/epd.2019.1038DOI Listing
February 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

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy.

Front Neuroinform 2018 11;12:45. Epub 2018 Jul 11.

School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, United Kingdom.

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https://www.frontiersin.org/article/10.3389/fninf.2018.00045
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http://dx.doi.org/10.3389/fninf.2018.00045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050353PMC
July 2018

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

N Engl J Med 2018 05 24;378(20):1898-1907. Epub 2018 Apr 24.

From the Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (A.S., A.K.); BioMarin Pharmaceutical, Novato, CA (T.A., H.C., P.S., D.J.); the Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome (N.S.); Nationwide Children's Hospital and Ohio State University, Columbus (E.L.R.); UCL Great Ormond Street Institute of Child Health, London (P.G.); and the Citigroup Biomedical Imaging Center, Departments of Radiology and Genetic Medicine, Weill Cornell Medical College, New York (D.B., J.P.D.).

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http://dx.doi.org/10.1056/NEJMoa1712649DOI Listing
May 2018

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.

Epilepsia 2018 04 24;59(4):745-752. Epub 2018 Feb 24.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Necker-Enfants Malades Hospital, Inserm U1129, Imagine Institute, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1111/epi.14022DOI 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

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

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

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 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

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

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

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

Claustrum damage and refractory status epilepticus following febrile illness.

Neurology 2015 Oct 4;85(14):1224-32. Epub 2015 Sep 4.

From the Department of Biomedical, Metabolic, and Neural Science (S.M., G.M., G.G.), University of Modena and Reggio Emilia, Modena; NOCSAE Hospital (S.M., G.M., G.G., A.C.), ASL Modena, Italy; Clinic of Neurology (J.S., P.H., V.M., D.B., M.B.) and Radiodiagnostic Institute (P.K.), University Hospital Ostrava; the Neurological Department of Na Homolce Hospital (I.M.), Prague, Czech Republic; and the Division of Neurology (N.S., N.P.), Bambino Gesù Children's Hospital, IRCCS, Rome Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607596PMC
October 2015

Seizing control of epileptic activity can improve outcome.

Epilepsia 2015 Oct 21;56(10):1482-5. Epub 2015 Aug 21.

Neurology, University of Vermont, Burlington, Vermont, U.S.A.

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http://dx.doi.org/10.1111/epi.13109DOI Listing
October 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

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 2015

Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly.

J Neuroimaging 2015 Sep-Oct;25(5):844-7. Epub 2015 Feb 6.

Bambino Gesù Children's Hospital - Neuroradiology, Rome, Italy.

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http://dx.doi.org/10.1111/jon.12206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677057PMC
November 2016

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

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

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

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Pediatr Neurol 2014 May 11;50(5):530-5. Epub 2014 Jan 11.

Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.022DOI Listing
May 2014

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014 May 19;108(4):811-5. Epub 2014 Feb 19.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.02.009DOI Listing
May 2014

Therapeutic approach to epileptic encephalopathies.

Epilepsia 2013 Nov;54 Suppl 8:45-50

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

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http://dx.doi.org/10.1111/epi.12423DOI Listing
November 2013

Vagus nerve stimulation for drug-resistant Epilepsia Partialis Continua: report of four cases.

Epilepsy Res 2013 Nov 8;107(1-2):163-71. Epub 2013 Sep 8.

Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS. 4, Piazza Sant'Onofrio, 00165 Roma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.07.010DOI Listing
November 2013

Vagus nerve stimulation in refractory epilepsy: new indications and outcome assessment.

Epilepsy Behav 2013 Sep 6;28(3):374-8. Epub 2013 Jul 6.

Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2013.05.021DOI Listing
September 2013

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

Epileptic Disord 2013 Jun;15(2):158-65

Neurology Division, Ospedale Pediatrico Bambino Gesù, Rome.

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http://dx.doi.org/10.1684/epd.2013.0578DOI Listing
June 2013

Idiopathic focal epilepsies.

Handb Clin Neurol 2013 ;111:591-604

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

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00061-0DOI Listing
April 2014

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

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

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study.

Epilepsy Res 2012 Nov 5;102(1-2):94-9. Epub 2012 Jun 5.

Pediatric Neurology Unit, Neuroscience Department, "Tor Vergata" University Hospital of Rome, Viale Oxford 81, 00133 Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.05.004DOI Listing
November 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

Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome?

Epilepsia 2011 Oct;52 Suppl 8:28-30

Pediatric Epilepsy Unit, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weitzman Street, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03230.xDOI Listing
October 2011

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

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

Epilepsia 2011 Nov 21;52(11):e172-5. Epub 2011 Jul 21.

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

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03193.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.03193.xDOI Listing
November 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

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