Carla Marini

Carla Marini

UNVERIFIED PROFILE

Are you Carla Marini?   Register this Author

Register author
Carla Marini

Carla Marini

Publications by authors named "Carla Marini"

Are you Carla Marini?   Register this Author

100Publications

2956Reads

48Profile Views

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

Epilepsy Behav 2019 Jul 9:106373. 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Generalized epilepsies.

Handb Clin Neurol 2019 ;161:3-15

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.

J Pediatr Neurosci 2017 Jan-Mar;12(1):116-117

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/1817-1745.205627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437778PMC
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Definition and diagnostic criteria of sleep-related hypermotor epilepsy.

Neurology 2016 May 15;86(19):1834-42. Epub 2016 Apr 15.

From IRCCS Istituto delle Scienze Neurologiche (P.T., F.B., F. Provini, L.V., L.L., B.M., I.N.), Bologna; Department of Biomedical and Neuromotor Sciences (P.T., F.B., F. Provini, L.L.), University of Bologna, Italy; University College London-Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, London and Young Epilepsy, Lingfield, UK; Department of Epidemiology (D.H., R.O.), Mailman School of Public Health, and G.H. Sergievsky Center, College of Physicians & Surgeons, Columbia University, New York, NY; Unité Médicale Epilepsie et Malaises (P.K.), Pôle de Neurologie et Psychiatrie, CHU de Grenoble, France; "C. Munari" Center for Epilepsy Surgery (L.N., L.T.), Niguarda Hospital, Milan, Italy; Epilepsy Research Centre (I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neurology (C.B.), University of Bern, Switzerland; Unit of Neurology (F.C.), S. Orsola-Malpighi Hospital, University of Bologna, Italy; Department of Clinical Neurosciences (C.D.), Western General Hospital, Edinburgh, UK; Department of Medical and Surgical Sciences (A.G.), Institute of Neurology, University Magna Græcia, Catanzaro, Italy; Neurology Unit and Laboratories (R.G., C.M.), A. Meyer Children's Hospital, Florence, Italy; National Institute of Clinical Neuroscience (P.H.), Budapest, Hungary; Department of Neurology (M.M.), University of Minnesota Medical School, Minneapolis; Institute of Neurology Mondino (R.M.), University of Pavia; Sleep Disorders Center (L.P.), Department of Neurology, University of Parma, Italy; Department of Neurology (F. Picard), University Hospital and Medical School of Geneva, Switzerland; Department of Biomedical and Surgical Sciences (M.P.), University of Ferrara, Italy; Department of Clinical Neurosciences (P.R.), CHUV, Lausanne, Switzerland; Functional Neurology and Epileptology (P.R.), Hospices Civils de Lyon and CRNL, Lyon; Epilepsy Institute (P.R.), IDEE, Lyon, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862248PMC
May 2016

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,

View Article

Download full-text PDF

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

Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.

Epilepsy Behav 2015 Aug 16;49:343-6. Epub 2015 Jul 16.

Pediatric Neurology Unit, Children's Hospital "A. Meyer", University of Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2015.06.019DOI Listing
August 2015

Early and effective treatment of KCNQ2 encephalopathy.

Epilepsia 2015 May 16;56(5):685-91. Epub 2015 Apr 16.

Department of Neurology, University of California, San Francisco, San Francisco, California, U.S.A.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12984DOI Listing
May 2015

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Neurology 2015 Apr 13;84(15):1520-8. Epub 2015 Mar 13.

From the Pediatric Neurology and Neurogenetics Unit and Laboratories (V.C., L.C., F.M., C.M., R.G.), A. Meyer Children's Hospital-University of Florence; Department of Biotechnology and Biosciences and Center of Neuroscience (P.A., S.B., A.B.), Università di Milano-Bicocca, Milan; Neurophysiopathology Unit (M.A., A.M., C.L., F.P., A.R.), Sleep and Epilepsy Center, Department of Systems Medicine, University of Rome Tor Vergata General Hospital, Rome; IRCCS Neuromed (A.R.), Pozzilli, Isernia; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/84/15/1520.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000147
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408286PMC
April 2015

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Epilepsia 2014 Nov 29;55(11):1748-53. Epub 2014 Sep 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12803DOI Listing
November 2014

Identification of a novel overlapping sequential E epitope (E') on the bovine leukaemia virus SU glycoprotein and analysis of immunological data.

Vet Microbiol 2014 Aug 23;172(1-2):157-67. Epub 2014 May 23.

Istituto Zooprofilattico Sperimentale dell' Umbria e delle Marche, Perugia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.vetmic.2014.05.016DOI Listing
August 2014

Evaluation of storage conditions on equine adipose tissue-derived multipotent mesenchymal stromal cells.

Vet J 2014 May 27;200(2):339-42. Epub 2014 Feb 27.

Department of Veterinary Medicine, University of Perugia - Via San Costanzo, 4, 06126 Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tvjl.2014.02.018DOI Listing
May 2014

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Neurotherapeutics 2014 Apr;11(2):269-85

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

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s13311-014-0267
Web Search
http://link.springer.com/10.1007/s13311-014-0267-0
Publisher Site
http://dx.doi.org/10.1007/s13311-014-0267-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996114PMC
April 2014

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Neurology 2013 Nov 9;81(19):1697-703. Epub 2013 Oct 9.

From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J.), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children's Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Pädiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children's Hospital Tübingen, Eberhard Karls University of Tübingen; Center for Child Neurology (I.B.), Sana Krankenhaus Gerresheim, Düsseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children's Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis U

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/01.wnl.0000435296.72400.a1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812107PMC
November 2013

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Am J Med Genet A 2013 Jun 30;161A(6):1459-64. Epub 2013 Apr 30.

Pediatric Neurology Unit and Laboratories, Pediatric Hospital A. Meyer, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35907DOI Listing
June 2013

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

Epileptic Disord 2013 Jun;15(2):123-7

Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Bologna.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2013.0569DOI Listing
June 2013

SCN1A testing for epilepsy: application in clinical practice.

Epilepsia 2013 May 15;54(5):946-52. Epub 2013 Apr 15.

Department of Pediatrics and Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12168DOI Listing
May 2013

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.

Neurology 2013 Mar 13;80(12):1078-85. Epub 2013 Feb 13.

Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0b013e31828868e7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662306PMC
March 2013

Do mutations in SCN1B cause Dravet syndrome?

Epilepsy Res 2013 Jan 20;103(1):97-100. Epub 2012 Nov 20.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2012.10.009DOI Listing
January 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
Publisher Site
http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Neurology 2012 Nov 17;79(21):2109-14. Epub 2012 Oct 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0b013e3182752ca2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511926PMC
November 2012

Atypical face shape and genomic structural variants in epilepsy.

Brain 2012 Oct 13;135(Pt 10):3101-14. Epub 2012 Sep 13.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aws232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470710PMC
October 2012

Development of culture-based serological assays to diagnose Babesia divergens infections.

Vector Borne Zoonotic Dis 2012 Feb 13;12(2):106-10. Epub 2011 Oct 13.

Dip. di Sanità Pubblica e Malattie Infettive, Università di Roma Sapienza, Piazzale Aldo Moro 5, Rome, Italy.

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/vbz.2011.0706
Publisher Site
http://dx.doi.org/10.1089/vbz.2011.0706DOI Listing
February 2012

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Arch Neurol 2011 Sep 9;68(9):1152-5. Epub 2011 May 9.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.102DOI Listing
September 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.

View Article

Download full-text PDF

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

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

Dev Med Child Neurol 2011 Apr 11;53(4):354-60. Epub 2011 Feb 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2010.03889.xDOI Listing
April 2011

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Am J Med Genet A 2011 Apr 17;155A(4):892-7. Epub 2011 Mar 17.

Paediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Firenze, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33923DOI Listing
April 2011

The genetics of Dravet syndrome.

Epilepsia 2011 Apr;52 Suppl 2:24-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2011.02997.xDOI Listing
April 2011

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Am J Med Genet A 2011 Jan 10;155A(1):164-7. Epub 2010 Dec 10.

Children's Hospital A. Meyer, University of Florence, Firenze, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33753DOI Listing
January 2011

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Epilepsia 2010 Dec 18;51(12):2474-7. Epub 2010 Nov 18.

Child Neurology Unit, Children's Hospital A. Meyer - University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2010.02790.xDOI Listing
December 2010

Ultrastructural morphology of equine adipose-derived mesenchymal stem cells.

Histol Histopathol 2010 10;25(10):1277-85

Department of Biopathological Science and Animal and Food Hygiene, University of Perugia, Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.14670/HH-25.1277DOI Listing
October 2010

Na+ channelopathies and epilepsy: recent advances and new perspectives.

Expert Rev Clin Pharmacol 2010 May;3(3):371-84

Child Neurology Unit, Pediatric Hospital A. Meyer, University of Firenze, Viale Pieraccini, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/ecp.10.20DOI Listing
May 2010

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Epilepsia 2010 Apr 22;51(4):647-54. Epub 2009 Sep 22.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Viale Pieraccini 24, Florence, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1528-1167.2009.02308.x
Publisher Site
http://dx.doi.org/10.1111/j.1528-1167.2009.02308.xDOI Listing
April 2010

Clinical spectrum of SCN1A mutations.

Epilepsia 2009 May;50 Suppl 5:20-3

Institute of Neurology, University Magna Graecia, Catanzaro, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2009.02115.xDOI Listing
May 2009

Genetics of antiepileptic drug resistance.

Curr Opin Neurol 2009 Apr;22(2):150-6

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0b013e32832923ecDOI Listing
April 2009

Intracortical hyperexcitability in humans with a GABAA receptor mutation.

Cereb Cortex 2008 Mar 5;18(3):664-9. Epub 2007 Jul 5.

Department of Medicine, The University of Melbourne, Heidelberg, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/cercor/bhm100DOI Listing
March 2008

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.

Biochem Pharmacol 2007 Oct 23;74(8):1308-14. Epub 2007 Jun 23.

Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcp.2007.06.030DOI Listing
October 2007

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Epilepsia 2007 Sep 11;48(9):1678-1685. Epub 2007 Jun 11.

Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2007.01122.xDOI Listing
September 2007

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Epilepsia 2007 Sep 18;48(9):1686-1690. Epub 2007 Jul 18.

Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2007.01173.xDOI Listing
September 2007

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.

Epilepsia 2006 Oct;47(10):1737-40

Epilepsy, Neurophysiology and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2006.00675.xDOI Listing
October 2006

A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding.

Neuroimage 2006 Sep 27;32(3):995-1000. Epub 2006 Jul 27.

Department of Medicine, The University of Melbourne, Austin Health Heidelberg, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuroimage.2006.05.059DOI Listing
September 2006

Antibody response in sheep experimentally infected with different small ruminant lentivirus genotypes.

Vet Immunol Immunopathol 2006 Aug 12;112(3-4):264-71. Epub 2006 May 12.

Dipartimento di Produzioni Animali, Epidemiologia ed Ecologia, Facoltà di Medicina Veterinaria, Università di Torino, 10095 Grugliasco, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.vetimm.2006.03.016DOI Listing
August 2006

Genetic malformations of cortical development.

Exp Brain Res 2006 Aug 25;173(2):322-33. Epub 2006 May 25.

Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Via dei Giacinti 2, 56018, Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00221-006-0501-z
Publisher Site
http://dx.doi.org/10.1007/s00221-006-0501-zDOI Listing
August 2006

Distinguishing sleep disorders from seizures: diagnosing bumps in the night.

Arch Neurol 2006 May;63(5):705-9

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneur.63.5.705DOI Listing
May 2006

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation.

Epilepsia 2005 Jan;46(1):118-23

Department of Child Neurology and Psychiatry, University of Cagliari, Cagliari, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.0013-9580.2005.26304.xDOI Listing
January 2005

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2.

Adv Neurol 2005 ;95:273-9

Epilepsy, Neurophysiology and Neurogenetics Unit, Department of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy.

View Article

Download full-text PDF

Source
December 2004

Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?

Brain 2004 Aug 16;127(Pt 8):1878-86. Epub 2004 Jun 16.

Epilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, The University of Melbourne, Banksia Street, West Heidelberg, Victoria, 3081 Australia.

View Article

Download full-text PDF

Source
http://brain.oxfordjournals.org/content/brain/127/8/1878.ful
Web Search
http://www.brain.oupjournals.org/cgi/doi/10.1093/brain/awh21
Publisher Site
http://dx.doi.org/10.1093/brain/awh211DOI Listing
August 2004

Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance.

Epilepsia 2003 Sep;44(9):1250-4

Epilepsy Research Institute, Department of Medicine (Neurology) Austin and Repatriation Medical Centre, The University of Melbourne Department of Neurology, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1528-1157.2003.07303.xDOI Listing
September 2003

The genetic and molecular basis of epilepsy.

Trends Mol Med 2003 Jul;9(7):300-6

Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa 56018, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1471-4914(03)00116-3DOI Listing
July 2003

EEG in adult-onset idiopathic generalized epilepsy.

Epilepsia 2003 Feb;44(2):252-6

Epilepsy Research Institute and Department of Medicine (Neurology), University of Melbourne, Austin and Repatriation Medical Centre, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1528-1157.2003.26402.xDOI Listing
February 2003

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Brain 2003 Jan;126(Pt 1):230-40

Epilepsy Research Institute, The University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awg018DOI Listing
January 2003

Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.

Epileptic Disord 2002 Sep;4(3):183-7

Neurological Institute, University of Bologna, Italy.

View Article

Download full-text PDF

Source
September 2002