Publications by authors named "Davide Mei"

74Publications

Dravet Syndrome: A Case Series.

Indian J Pediatr 2020 Jun 26. Epub 2020 Jun 26.

Department of Pediatrics, The Royal Hospital, Ministry of Health, Muscat, Oman.

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http://dx.doi.org/10.1007/s12098-020-03383-zDOI Listing
June 2020

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

Cereb Cortex 2020 Jun 25. Epub 2020 Jun 25.

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

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

Early infantile epileptic-dyskinetic encephalopathy due to biallelic mutations.

Neurol Genet 2020 Feb 2;6(1):e387. Epub 2020 Jan 2.

Pediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984131PMC
February 2020

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Epilepsia 2019 12;60 Suppl 3:S2-S7

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/10.1111/epi.16054DOI Listing
December 2019

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

Nat Commun 2019 10 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

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 11 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
November 2019

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

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

Epilepsy Behav 2019 12 9;101(Pt B):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.

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

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 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

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

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

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

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

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

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.

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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.

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

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

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

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Neurol Sci 2015 Nov 14;36(11):2151-5. Epub 2015 Jul 14.

Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy.

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http://dx.doi.org/10.1007/s10072-015-2324-9DOI Listing
November 2015

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

J Med Genet 2015 Jun 9;52(6):405-12. Epub 2015 Mar 9.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102959DOI Listing
June 2015

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?

Epilepsy Behav 2015 Feb 7;43:89-92. Epub 2015 Jan 7.

Regional Center for Diagnosis and Treatment of Childhood Epilepsy, Department of Neuropsychiatry, Ospedali Riuniti, Ancona, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2014.11.009DOI Listing
February 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.

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

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Ann Neurol 2014 Jan 2;75(1):77-87. Epub 2014 Jan 2.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, and Vita-Salute San Raffaele University, Milan, Italy.

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http://doi.wiley.com/10.1002/ana.24028
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http://dx.doi.org/10.1002/ana.24028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932827PMC
January 2014

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

Cephalalgia 2013 Dec 9;33(16):1302-10. Epub 2013 Jul 9.

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

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http://dx.doi.org/10.1177/0333102413495116DOI Listing
December 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.

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

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

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.

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

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.

Neurobiol Dis 2013 Feb 13;50:135-41. Epub 2012 Oct 13.

Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA.

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http://dx.doi.org/10.1016/j.nbd.2012.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762699PMC
February 2013

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).

Epileptic Disord 2012 Sep;14(3):304-9

IRCCS, Institute of Neurological Sciences, Department of Neurological Sciences, University of Bologna, Bologna.

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http://dx.doi.org/10.1684/epd.2012.0526DOI Listing
September 2012

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Eur J Hum Genet 2012 Sep 15;20(9):995-8. Epub 2012 Feb 15.

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

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http://dx.doi.org/10.1038/ejhg.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421113PMC
September 2012

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Epilepsy Res 2012 Mar 8;99(1-2):21-7. Epub 2011 Nov 8.

Neurology Clinic, Polytechnic University of Marche, Ancona, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.10.010DOI Listing
March 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.

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http://dx.doi.org/10.1001/archneurol.2011.102DOI Listing
September 2011

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Am J Med Genet A 2011 May 11;155A(5):1140-6. Epub 2011 Apr 11.

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

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http://dx.doi.org/10.1002/ajmg.a.33880DOI Listing
May 2011

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

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

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

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

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.

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

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

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.

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

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria.

Epilepsia 2010 Sep;51(9):1902-5

Epilepsy Research Centre, Austin Health and University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02694.xDOI Listing
September 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.

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

Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene.

Brain Dev 2010 Jun 19;32(6):511-5. Epub 2009 Jul 19.

Child Neurology, Paediatric Department, I Faculty of Medicine, La Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1016/j.braindev.2009.06.007DOI Listing
June 2010

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.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01122.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.

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

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

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Neurogenetics 2004 Sep 28;5(3):191-6. Epub 2004 Jul 28.

IRCCS Stella Maris Foundation, Scientific Institute for Child and Adolescence Neurology and Psychiatry, Pisa, Italy.

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http://dx.doi.org/10.1007/s10048-004-0187-yDOI Listing
September 2004