Renzo Guerrini

Renzo Guerrini

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Renzo Guerrini

Publications by authors named "Renzo Guerrini"

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Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mol Genet Metab Rep 2019 Dec 21;21:100502. Epub 2019 Aug 21.

Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713842PMC
December 2019

Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study.

Epilepsia 2019 Nov 20;60(11):2255-2262. Epub 2019 Oct 20.

Neuroscience Center of Excellence, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/epi.16363DOI Listing
November 2019

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions.

Drugs 2019 Nov 16. Epub 2019 Nov 16.

UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s40265-019-01223-9DOI Listing
November 2019

Automatic detection and sonification of nonmotor generalized onset epileptic seizures: Preliminary results.

Brain Res 2019 Oct 19;1721:146341. Epub 2019 Jul 19.

Department of Information Engineering, Università degli Studi di Firenze, Firenze, Italy.

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http://dx.doi.org/10.1016/j.brainres.2019.146341DOI Listing
October 2019

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Neurology 2019 Oct 4;93(14):e1360-e1373. Epub 2019 Sep 4.

From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of California, San Francisco; Department of Neuroscience, Pharmacology and Child Health (R.G.), Children's Hospital A. Meyer and University of Florence, Italy; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute; and Departments of Pediatrics and Neurology (W.B.D.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000008200DOI Listing
October 2019

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Mol Genet Metab 2019 Oct 31. Epub 2019 Oct 31.

Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.09.005DOI Listing
October 2019

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

Parkinsonism Relat Disord 2019 Sep 18;68:1-3. Epub 2019 Sep 18.

Division of Child Neurology and Infantile Psychiatry, Department of Neuroscience, Sapienza University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.016DOI Listing
September 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

What is the role of next generation sequencing in status epilepticus?

Epilepsy Behav 2019 Jul 9. Epub 2019 Jul 9.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2019.06.017DOI Listing
July 2019

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 Jun 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777581PMC
June 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 Mar 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

J Neurol 2019 Jan 31;266(1):92-101. Epub 2018 Oct 31.

Clinic of Paediatric Neurology and Laboratories, A.O.U Meyer, Viale Pieraccini n.24, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s00415-018-9084-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342868PMC
January 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Generalized epilepsies.

Handb Clin Neurol 2019 ;161:3-15

Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1016/B978-0-444-64142-7.00038-2DOI Listing
January 2019

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

Am J Med Genet A 2018 12 25;176(12):2808-2812. Epub 2018 Aug 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.40503
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http://dx.doi.org/10.1002/ajmg.a.40503DOI Listing
December 2018

Ketamine for Refractory Status Epilepticus: A Systematic Review.

CNS Drugs 2018 11;32(11):997-1009

Neuroscience Department, Children's Hospital Anna Meyer, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s40263-018-0569-6DOI Listing
November 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures.

Epilepsy Behav 2018 10 28;87:167-172. Epub 2018 Sep 28.

Italy Institutes of Neurology, Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Catanzaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2018.09.008DOI Listing
October 2018

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

BMC Med Genet 2018 10 11;19(1):183. Epub 2018 Oct 11.

Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0694-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180571PMC
October 2018

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

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Am J Med Genet A 2018 08 28;176(8):1748-1752. Epub 2018 Jul 28.

Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38840DOI Listing
August 2018

Unstable non-coding pentanucleotide repeats destabilize cortical excitability.

Brain 2018 08;141(8):2232-2235

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1093/brain/awy196DOI Listing
August 2018

Neuroimaging in mitochondrial disorders.

Essays Biochem 2018 07 20;62(3):409-421. Epub 2018 Jul 20.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy

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http://dx.doi.org/10.1042/EBC20170109DOI Listing
July 2018

Long-term efficacy of add-on lacosamide treatment in children and adolescents with refractory epilepsies: A single-center observational study.

Epilepsia 2018 05 17;59(5):1004-1010. Epub 2018 Apr 17.

Neuroscience Center of Excellence, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://doi.wiley.com/10.1111/epi.14071
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http://dx.doi.org/10.1111/epi.14071DOI Listing
May 2018

Relationships Between Morphologic and Functional Patterns in the Polymicrogyric Cortex.

Cereb Cortex 2018 03;28(3):1076-1086

Neuroscience Department, Children's Hospital A. Meyer-University of Florence, 50139 Florence, Italy.

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http://dx.doi.org/10.1093/cercor/bhx036DOI Listing
March 2018

Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo.

Neurosci Lett 2018 03 12;668:103-107. Epub 2018 Jan 12.

Department of Health Sciences, Section of Clinical Pharmacology and Oncology, University of Florence, Viale Pieraccini 6, 50139, Italy.

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http://dx.doi.org/10.1016/j.neulet.2018.01.023DOI Listing
March 2018

Comparative efficacy of antiepileptic drugs in children and adolescents: A network meta-analysis.

Epilepsia 2018 02 22;59(2):297-314. Epub 2017 Dec 22.

Neuroscience Center of Excellence, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/epi.13981DOI Listing
February 2018

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Brain 2018 02;141(2):391-408

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

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https://academic.oup.com/brain/article/141/2/391/4818311
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http://dx.doi.org/10.1093/brain/awx341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837616PMC
February 2018

Genetic testing to prevent adverse reactions to antiepileptic drugs: Primum non nocere.

Neurology 2018 01 29;90(4):155-156. Epub 2017 Dec 29.

From the Pediatric Neurology Unit and Laboratories (R.G.), Children's Hospital A. Meyer-University of Florence; IRCCS Stella Maris (R.G.), Pisa; Department of Internal Medicine and Therapeutics (E.P.), University of Pavia; and Clinical Trial Center (E.P.), C. Mondino National Neurological Institute, Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004869DOI Listing
January 2018

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Neurol Genet 2017 Dec 11;3(6):e206. Epub 2017 Dec 11.

Pediatric Neurology Unit (C.M., E.P., D.M., F.M., T.M., E.C., S.V., D.D.V., R.G.), Neurogenetics and Neurobiology Laboratories, Neuroscience Department, A. Meyer Pediatric Hospital, University of Florence; Neurology Unit (M.R., C.C., P.C.), Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia; Child Neurology Service (L.P.), Hospital of Bolzano; Metabolic Unit (E.P.), A. Meyer Pediatric Hospital, Florence; Medical Genetics Unit (M.G.), Azienda Sanitaria Locale Bari; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia; Department of Experimental Neurosciences (P.C.), "Istituto di Ricovero e Cura a Carattere Scientifico," IRCCS Santa Lucia Foundation, Rome; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250PMC
December 2017

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

Eur J Paediatr Neurol 2017 11 8;21(6):923. Epub 2017 Aug 8.

Molecular Medicine, IRCCS Stella Maris, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.06.005DOI Listing
November 2017

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.

N Engl J Med 2017 10;377(17):1648-1656

From the Departments of Neuropathology (I.B., G.H., R.C., K.K.) and Neurosurgery (K.R.) and the Epilepsy Center (H. Hamer, H.S.), University Hospital Erlangen, Erlangen, the Epilepsy Center Bethel, Krankenhaus Mara, Bielefeld (C.G.B., M.P.), the Departments of Epileptology (C.E., G.W.) and Neuropathology (A.B.), University of Bonn Medical Center, and Medical Faculty, University of Bonn (J.S.), Bonn, the Neuropediatric Clinic, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth (T.P., H. Holthausen, M.K., P.A.W.), the Epilepsy Center Berlin-Brandenburg, Berlin (H.J.M.), the Epilepsy Center (G.H., A.S.-B.) and Department of Neurosurgery (J.Z., D.H.H.), University Hospital, and the Department of Neuroradiology, Medical Center-University of Freiburg, and Faculty of Medicine, University of Freiburg (H.U.) Freiburg, Kork Epilepsy Center, Kehl-Kork (B.J.S., T.B.), the Departments of Neuropathology (S.V.) and Neurology (U.R.), University Hospital Greifswald, Greifswald, the Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen (H.L., Y.W.), the Department of Neurology, University of Ulm, Ulm (H.L., Y.W.), the Epilepsy Center, Department of Neurology, Ludwig-Maximilians-University Hospital, Munich (S.N., E.H., P.A.W.), Sächsisches Epilepsiezentrum Radeberg, Radeberg (T.M., M.L.), Epilepsy Center Frankfurt Rhine-Main and the Department of Neurology, Goethe University, Frankfurt am Main (F.R., A.H.), the Epilepsy Center Hessen-Marburg, Philipps-University Marburg, Marburg (F.R., A.H.), and the Department of Social Medicine, Occupational and Environmental Dermatology, Heidelberg University, Heidelberg (T.L.D.) - all in Germany; the Clinical Epileptology and Experimental Neurophysiology Unit (R.S.) and the Department of Neurophysiology, Epilepsy Center (G.A.), IRCCS Foundation, Neurological Institute C. Besta, and the Claudio Munari Epilepsy Surgery Center, Niguarda Hospital (L.T., G.L.R.), Milan, and the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence (R.G., C.B.) - all in Italy; Brain Center Rudolf Magnus, Department of Neurology and Neurosurgery (K.P.B., F.L.), and the Department of (Neuro)Pathology (E.A.), University Medical Center Utrecht, Utrecht, the Department of Neurosurgery, VU University Medical Center (J.C.B.), and the Department of (Neuro)Pathology, Academic Medisch Centrum, University of Amsterdam (E.A., A.M.), and the Department of (Neuro)Pathology, VU University Medical Center (E.A., A.M.), Amsterdam, Stichting Epilepsie Instellingen Nederland, Heemstede (E.A.), and the Department of Neurosurgery, Academic Center for Epileptology, Maastricht University Medical Center, Maastricht (O.S.) - all in the Netherlands; the Department of Neurosurgery, Sainte-Anne Hospital, and Paris Descartes University, Paris (F.C.), the Department of Neurology, Michallon Hospital, GIN INSERM Unité 836, Grenoble Alpes University, Grenoble (P. Kahane), and the Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, University Hospitals of Lyon, and the Brain Dynamics and Cognition team, Lyon Neurosciences Research Center, Lyon (A.A., A.U.-C.) - all in France; the Departments of Neuropathology (M.T.) and Clinical and Experimental Epilepsy (M.C.W., S.M.S., J.S.D., A.W.M.), UCL Institute of Neurology, and the Developmental Biology and Cancer Programme (T.S.J.) and Developmental Neurosciences Program (J.H.C.), UCL-Great Ormond Street Institute of Child Health, and the Department of Histopathology, Great Ormond Street Hospital for Children (T.S.J.), London, and Young Epilepsy, Lingfield (J.H.C.) - all in the United Kingdom; the Departments of Neurology (C.Ö.) and Pathology (B.O.), Istanbul University, Cerrahpasa Medical Faculty, Istanbul, Turkey; the Department of Pediatric Neurology, Motol Epilepsy Center, Charles University in Prague, and the 2nd Faculty of Medicine, Motol University Hospital, Prague, Czech Republic (P. Krsek); the Department of Anatomical Pathology, Hospital Pedro Hispano, Matosinhos (M.H.), and the Laboratory of Neuropathology, Department of Neurosciences, Hospital de Santa Maria-Centro Hospitalar de Lisboa Norte, Lisbon (J.P.) - both in Portugal; the Epilepsy Unit, Child Neurology Department, Hospital San Juan de Dios, Barcelona (A.A., A.U.-C.); the Department of Pediatrics, Medical University Vienna, Vienna (M.F., A.M.), the Departments of Neurology (E.T.) and Neurosurgery (P.A.W.), Christian Doppler Medical Center, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, and the Department of Neurology I, Neuromed Campus, Kepler Universitätsklinikum, Linz (T.J.O.) - all in Austria; the Swiss Epilepsy Center and Department of Neurology, University Hospital, Zurich, Switzerland (T.G.); the Department of Neurology, Hospital Ruber Internacional, Madrid (A.G.-N., R.T.D.); and the Neurosurgical Department (B.Z.) and Epilepsy Monitoring Unit (K.G.), St. Luke's Hospital, Thessaloniki, Greece.

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http://www.nejm.org/doi/10.1056/NEJMoa1703784
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http://dx.doi.org/10.1056/NEJMoa1703784DOI Listing
October 2017

Hemicerebellitis can drive handedness shift.

Cerebellum Ataxias 2017 14;4:14. Epub 2017 Sep 14.

Neurology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Viale Pieraccini 23, 50139 Florence, Italy.

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http://dx.doi.org/10.1186/s40673-017-0074-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598001PMC
September 2017

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Mol Diagn Ther 2017 08;21(4):357-373

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s40291-017-0257-0DOI Listing
August 2017

Cognitive outcome after epilepsy surgery in children: A controlled longitudinal study.

Epilepsy Behav 2017 08 9;73:23-30. Epub 2017 Jun 9.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Viale Pieraccini 24, 50139 Florence, Italy; IRCCS Stella Maris, Viale del Tirreno 331, 56128 Calambrone Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.03.001DOI Listing
August 2017

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Eur J Paediatr Neurol 2017 Jul 15;21(4):671-677. Epub 2017 Apr 15.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.004DOI Listing
July 2017

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

J Biophotonics 2017 Jun 9;10(6-7):896-904. Epub 2017 Jan 9.

National Institute of Optics-National Research Council (INO-CNR), Via Nello Carrara 1, 50019, Sesto Fiorentino, Italy.

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http://dx.doi.org/10.1002/jbio.201600136DOI Listing
June 2017

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Cerebellum 2017 06;16(3):742-745

Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s12311-017-0843-zDOI Listing
June 2017

Lissencephaly: Expanded imaging and clinical classification.

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

Mycophenolate mofetil as induction and long-term maintaining treatment in childhood: Primary angiitis of the central nervous system.

Joint Bone Spine 2017 May 26;84(3):353-356. Epub 2016 Dec 26.

Rheumatology Unit-Paediatric Section, NEUROFARBA Department, Anna Meyer Children's Hospital, University of Florence, Pieraccini street, # 24, 50139 Firenze, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2016.12.004DOI Listing
May 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362187PMC
April 2017

Vagus nerve stimulation: Surgical technique of implantation and revision and related morbidity.

Epilepsia 2017 04;58 Suppl 1:85-90

Department of Neurosurgery, Anna Meyer Hospital, University of Firenze, Firenze, Italy.

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http://dx.doi.org/10.1111/epi.13678DOI Listing
April 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

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Hum Mutat 2017 02 9;38(2):216-225. Epub 2016 Dec 9.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/humu.23149DOI Listing
February 2017

Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies.

J Neurol 2017 Jan 14;264(1):179-181. Epub 2016 Nov 14.

Neuroradiology Unit, Meyer Children's Hospital Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s00415-016-8332-8DOI Listing
January 2017

Age-related differences in audiovisual interactions of semantically different stimuli.

Dev Psychol 2017 01 28;53(1):138-148. Epub 2016 Nov 28.

Unit of Neurology, Florence Health Authority.

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http://dx.doi.org/10.1037/dev0000256DOI Listing
January 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

Unilobar surgery for symptomatic epileptic spasms.

Ann Clin Transl Neurol 2017 01 19;4(1):36-45. Epub 2016 Nov 19.

Neuroscience Department Children's Hospital Anna Meyer-University of Florence Florence Italy; IRCCS Stella Maris Pisa Italy.

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http://dx.doi.org/10.1002/acn3.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221449PMC
January 2017

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Neurol Genet 2016 Dec 31;2(6):e118. Epub 2016 Oct 31.

The Danish Epilepsy Centre Filadelfia (R.S.M., G.R.), Dianalund, Denmark; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Sorbonne Universités (S.W., E.M., V.L., E.L., S.B.), UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, AP-HP, Institut du cerveau et la moelle (ICM)-Hôpital Pitié-Salpêtrière, Paris, France; Epilepsy Unit (S.W., V.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; Neurogenetics Group (S.W.), VIB-Department of Molecular Genetics; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (S.W.), University Hospital Antwerp, Belgium; Department of Pediatric Neurosurgery (M.C., S.F.-S., G.D.), Fondation Rothschild, Paris, France; Université Paris Sorbonne Cité (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Pères, Paris, France; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (S.M.H., J.W.P., K.M.B., G.M.C.), Huntsville, AL; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (D.M., V.C., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; Genosplice (P.d.l.G.), Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Amplexa Genetics (L.H.G.L.), Odense, Denmark; Department of Genetics and Cytogenetics (E.L., S.B.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; and University of Copenhagen (G.R.), Denmark.

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Source
http://dx.doi.org/10.1212/NXG.0000000000000118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089441PMC
December 2016