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Tytuł:
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.
Autorzy:
Mastrangelo M; Department of Women/Child Health and Urological Science, Sapienza University of Rome, Rome, Italy; Unit of Child Neurology and Psychiatry, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. Electronic address: .
Manti F; Unit of Child Neurology and Psychiatry, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Ricciardi G; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Bove R; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Greco C; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Tolve M; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Department of Experimental Medicine, Sapienza University of Rome, Italy.
Pisani F; Unit of Child Neurology and Psychiatry, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
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Źródło:
Epilepsy & behavior : E&B [Epilepsy Behav] 2024 Mar; Vol. 152, pp. 109670. Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/complications
Epilepsy*/genetics
Status Epilepticus*
Male ; Female ; Humans ; Retrospective Studies ; Cohort Studies ; Cognition
Czasopismo naukowe
Tytuł:
Scalp high-frequency oscillations differentiate neonates with seizures from healthy neonates.
Autorzy:
Cserpan D; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.
Guidi G; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.
Alessandri B; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.
Fedele T; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.
Rüegger A; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.
Pisani F; Department of Human Neurosciences, Child Neurology and Psychiatry Unit, Sapienza University of Rome, Rome, Italy.
Sarnthein J; Department of Neurosurgery, University Hospital Zurich, Zurich, Switzerland.; University of Zurich, Zurich, Switzerland.
Ramantani G; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.; University of Zurich, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland.
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Źródło:
Epilepsia open [Epilepsia Open] 2023 Dec; Vol. 8 (4), pp. 1491-1502. Date of Electronic Publication: 2023 Sep 20.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*
Status Epilepticus*
Infant, Newborn ; Humans ; Electroencephalography ; Scalp ; Seizures/diagnosis
Czasopismo naukowe
Tytuł:
The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study.
Autorzy:
Aricò M; Division of Child and Adolescent Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; UOC Neuropsichiatria Infantile, Azienda Unità Sanitaria Locale Bologna, Italy.
Mastrangelo M; Department of Women/Child Health and Urological Science, Sapienza-University of Rome, Italy; Child Neurology and Psychiatry Unit, Azienda Ospedaliero Universitaria Policlinico Umberto I, Rome, Italy. Electronic address: .
Di Noia SP; Division of Child and Adolescent Neurology and Psychiatry, Azienda Ospedaliero Universitaria Ospedali Riuniti Foggia, Italy; Department of Neuroscience, University of Florence, Florence, Italy.
Mabusi MS; Outpatients Department, Pediatric Epilepsy Unit, Saint Francis Referral Hospital, Ifakara, Tanzania.
Kalolo A; Department of Public Health, Saint Francis University College of Health and Allied Sciences, Ifakara, Tanzania.
Pisani F; Division of Child and Adolescent Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Child Neurology and Psychiatry Unit, Azienda Ospedaliero Universitaria Policlinico Umberto I, Rome, Italy.
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Źródło:
Epilepsy & behavior : E&B [Epilepsy Behav] 2023 Nov; Vol. 148, pp. 109454. Date of Electronic Publication: 2023 Sep 28.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Valproic Acid*/therapeutic use
Epilepsy*/diagnosis
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Child ; Humans ; Tanzania/epidemiology ; Anticonvulsants/therapeutic use ; Carbamazepine/therapeutic use ; Phenobarbital/therapeutic use ; Benzodiazepines/therapeutic use
Czasopismo naukowe
Tytuł:
Sudden unexpected death in epilepsy: The need for age-specific evidence-based prevention.
Autorzy:
Mastrangelo M; Division of Child and Adolescent Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.
Esposito D; Division of Child and Adolescent Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.
Pisani F; Division of Child and Adolescent Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.
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Źródło:
Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Sep; Vol. 65 (9), pp. 1134-1135. Date of Electronic Publication: 2023 Feb 22.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Sudden Unexpected Death in Epilepsy*
Epilepsy*/complications
Humans ; Death, Sudden/etiology ; Death, Sudden/prevention & control ; Age Factors ; Risk Factors
Czasopismo naukowe
Tytuł:
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Autorzy:
Spagnoli C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Fusco C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Pisani F; Human Neurosciences Department, Sapienza University of Rome, 00185 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 14; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Parkinsonian Disorders*
Intellectual Disability*
Neurodegenerative Diseases*
Epilepsy*/genetics
Child ; Humans ; Seizures
Czasopismo naukowe
Tytuł:
Levetiracetam versus Phenobarbital for Neonatal Seizures: A Retrospective Cohort Study.
Autorzy:
Bättig L; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Dünner C; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Cserpan D; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Rüegger A; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Hagmann C; Department of Neonatology and Pediatric Intensive Care, University Children's Hospital Zurich, Switzerland; Children's Research Center, University Children's Hospital Zurich, Switzerland; University of Zurich, Switzerland.
Schmitt B; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Pisani F; Child Neuropsychiatry Unit, Medicine and Surgery Department, University of Parma, Italy.
Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland; Children's Research Center, University Children's Hospital Zurich, Switzerland; University of Zurich, Switzerland. Electronic address: .
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Źródło:
Pediatric neurology [Pediatr Neurol] 2023 Jan; Vol. 138, pp. 62-70. Date of Electronic Publication: 2022 Oct 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epilepsy*/drug therapy
Infant, Newborn, Diseases*/drug therapy
Infant, Newborn ; Humans ; Levetiracetam/adverse effects ; Anticonvulsants/adverse effects ; Retrospective Studies ; Seizures/etiology ; Seizures/chemically induced ; Phenobarbital/therapeutic use
Czasopismo naukowe
Tytuł:
A new CHD2 variant: not only severe epilepsy-a case report.
Autorzy:
Piccolo B; Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital Parma, Via A. Gramsci 14, 43126, Parma, Italy. .
Gennaro E; Human Genetic Laboratory, Giannina Gaslini Institute, University of Genoa, Genoa, Italy.
Pisani F; Child Neuropsychiatry Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy.
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Źródło:
Acta neurologica Belgica [Acta Neurol Belg] 2022 Dec; Vol. 122 (6), pp. 1653-1656. Date of Electronic Publication: 2021 Oct 05.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Epilepsy*/etiology
Epilepsy*/genetics
Humans ; Electroencephalography ; DNA-Binding Proteins
Raport
Tytuł:
The duration of successive epileptic seizures is monotonically correlated in neonates.
Autorzy:
Pisani F; Department of Medicine and Surgery, University of Parma, Italy; Child Neuropsychiatry Unit, Pediatrics Department, University-Hospital of Parma, Italy; Child Neuropsychiatry Unit, Department of Human Neuroscience, Sapienza University of Rome, Italy.
Statello R; Department of Medicine and Surgery, University of Parma, Italy; Department of Medical Sciences and Public Health, University of Cagliari, Italy. Electronic address: .
Pedrazzi G; Department of Medicine and Surgery, University of Parma, Italy.
Miragoli M; Department of Medicine and Surgery, University of Parma, Italy; Department of Molecular Cardiology, Humanitas Research Hospital, IRCCS, Italy.
Piccolo B; Child Neuropsychiatry Unit, Pediatrics Department, University-Hospital of Parma, Italy.
Turco EC; Child Neuropsychiatry Unit, Pediatrics Department, University-Hospital of Parma, Italy.
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Źródło:
Neurophysiologie clinique = Clinical neurophysiology [Neurophysiol Clin] 2022 Nov; Vol. 52 (6), pp. 472-481. Date of Electronic Publication: 2022 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*
Status Epilepticus*
Infant, Newborn ; Humans ; Retrospective Studies ; Seizures/therapy ; Electroencephalography
Czasopismo naukowe
Tytuł:
Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis.
Autorzy:
Gasparini S; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.; Regional Epilepsy Centre at Great Metropolitan Hospital, Via Melacrino, Reggio Calabria, Italy.
Neri S; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Brigo F; Department of Neurology, Hospital of Merano (SABES-ASDAA), Merano, Italy.
Cianci V; Regional Epilepsy Centre at Great Metropolitan Hospital, Via Melacrino, Reggio Calabria, Italy.
Mammì A; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Pascarella A; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Manzo L; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Benna P; Neuroscience Department, University of Turin, Turin, Italy.
Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; IRCCS Istituto 'G. Gaslini', Genova, Italy.
Martino T; Epilepsy Centre, Clinic of Nervous System Diseases, University of Foggia, Ospedali Riuniti, Foggia, Italy.
Romoli M; Neurology Unit and Stroke Unit, Ospedale 'Bufalini', Cesena, Italy.
Muccioli L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Nilo A; Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, Udine, Italy.
Valente M; Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, Udine, Italy.; Department of Medical Area (DAME), University of Udine, Udine, Italy.
Cagnetti C; Neurology Unit, Università Politecnica Delle Marche, Ancona, Italy.
Labate A; Neurology Unit, Department of BIOMORF, University of Messina, Messina, Italy.
Gambardella A; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Pisani F; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Casciato S; IRCCS Neuromed, Pozzilli, Italy.
Di Gennaro G; IRCCS Neuromed, Pozzilli, Italy.
Belcastro V; Neurology Unit, Maggiore Hospital, ASST Lodi, Lodi, Italy.
Aguglia U; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.; Regional Epilepsy Centre at Great Metropolitan Hospital, Via Melacrino, Reggio Calabria, Italy.
Ferlazzo E; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. .; Regional Epilepsy Centre at Great Metropolitan Hospital, Via Melacrino, Reggio Calabria, Italy. .
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Corporate Authors:
Epilepsy Study Group of the Italian Neurological Society
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Sep; Vol. 43 (9), pp. 5229-5236. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Journal Article; Meta-Analysis; Review; Systematic Review
MeSH Terms:
Epilepsy*/complications
Intracranial Thrombosis*/complications
Intracranial Thrombosis*/epidemiology
Venous Thrombosis*/complications
Venous Thrombosis*/epidemiology
Humans ; Risk Factors ; Seizures/diagnosis ; Seizures/epidemiology ; Seizures/etiology
Czasopismo naukowe
Tytuł:
Beyond neonatal seizures - epileptic evolution in preterm newborns: a systematic review and meta-analysis.
Autorzy:
Falsaperla R; Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU 'Policlinico', PO 'San Marco', University of Catania, Catania, Italy.
Mauceri L; Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU 'Policlinico', PO 'San Marco', University of Catania, Catania, Italy.
Motta M; Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU 'Policlinico', PO 'San Marco', University of Catania, Catania, Italy.
Prezioso G; Pietro Barilla Children's Hospital - Clinic of Paediatrics, 14 Via Gramsci, Parma, Parma 43126, Italy.
Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.
Pisani F; Child Neuropsychiatric Unit, University Hospital of Parma, Italy - Medicine & Surgery Department, Via Gramsci, 14, Parma, 43126, Italy.
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Źródło:
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2022 Feb 01; Vol. 24 (1), pp. 140-150.
Typ publikacji:
Journal Article; Meta-Analysis; Systematic Review
MeSH Terms:
Epilepsy*/epidemiology
Infant, Newborn, Diseases*/epidemiology
Seizures*/epidemiology
Cross-Sectional Studies ; Humans ; Infant, Newborn ; Infant, Premature
Czasopismo naukowe
Tytuł:
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Autorzy:
Matricardi S; Child Neurology and Psychiatry Unit, 'G. Salesi' Children's Hospital, Ospedali Riuniti Ancona, Ancona, Italy.
Bonanni P; Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy.
Iapadre G; Department of Paediatrics, University of L'Aquila, L'Aquila, Italy.
Elia M; Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.
Cesaroni E; Child Neurology and Psychiatry Unit, 'G. Salesi' Children's Hospital, Ospedali Riuniti Ancona, Ancona, Italy.
Danieli A; Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy.
Negrin S; Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy.
Zagaroli L; Department of Paediatrics, University of L'Aquila, L'Aquila, Italy.
Operto FF; Child Neuropsychiatry Unit, Department of Medicine, Surgery, and Dentistry, University of Salerno, Salerno, Italy.
Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine, Luigi Vanvitelli University, Caserta, Italy.
Pisani F; Child Neuropsychiatric Unit, Maternal and Child Health Department, Parma University Hospital, Parma, Italy.
Turco EC; Child Neuropsychiatric Unit, Maternal and Child Health Department, Parma University Hospital, Parma, Italy.
Orsini A; Paediatric Neurology, Paediatric Department, Santa Chiara's University Hospital, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Bonuccelli A; Paediatric Neurology, Paediatric Department, Santa Chiara's University Hospital, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Savasta S; Department of Paediatrics, Maggiore Hospital ASST Crema, Crema, Italy.
Concolino D; Paediatrics Unit, Department of Health Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Di Cara G; Department of Paediatrics, University of Perugia, Perugia, Italy.
Striano P; Paediatric Neurology and Muscular Diseases Unit, Giannina Gaslini Institute, IRCCS, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Verrotti A; Department of Paediatrics, University of Perugia, Perugia, Italy.
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Źródło:
European journal of neurology [Eur J Neurol] 2022 Jan; Vol. 29 (1), pp. 19-25. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Epilepsy*/genetics
Quality of Life*
Child ; Child, Preschool ; Facies ; Female ; Humans ; Hyperventilation ; Infant ; Intellectual Disability ; Male ; Retrospective Studies ; Transcription Factor 4/genetics
SCR Disease Name:
Pitt-Hopkins syndrome
Czasopismo naukowe
Tytuł:
Epilepsy features in ARID1B-related Coffin-Siris syndrome.
Autorzy:
Proietti J; U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile - AOUI di Verona, Verona, Italy, PhD program Applied Sciences of Life and Health, University of Verona, Verona, Italy.
Amadori E; Pediatric Neurology and Muscolar Diseases Unit, IRCCS 'G. Gaslini' Insitute, Genova, Italy.
Striano P; Pediatric Neurology and Muscolar Diseases Unit, IRCCS 'G. Gaslini' Insitute, Genova, Italy, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Ricci E; IRCCS Istituto delle Scienze Neurologiche di Bologna, UO Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UO Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
Bana C; UOC Neurofisiopatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Dilena R; UOC Neurofisiopatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Gardella E; Department of Clinical Neurophysiology, Filadelfia Epilepsy Hospital, Dianalund, Denmark.
Klint Nielsen JE; Department of Clinical Medicine, Zealand University Hospital, Roskilde, Denmark.
Pisani F; U.O. di Neuropsichiatria Infantile, AOU di Parma, Parma, Italy.
Lo Barco T; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy, PhD program Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Fiorini E; U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile - AOUI di Verona, Verona, Italy, Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy.
Fontana E; U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile - AOUI di Verona, Verona, Italy, Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy.
Darra F; U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile - AOUI di Verona, Verona, Italy, Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy, Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy.
Dalla Bernardina B; Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy.
Cantalupo G; U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile - AOUI di Verona, Verona, Italy, Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy, Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy.
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Źródło:
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2021 Dec 01; Vol. 23 (6), pp. 865-874.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Epilepsy*/genetics
Hand Deformities, Congenital*/complications
Hand Deformities, Congenital*/genetics
Intellectual Disability*/complications
Intellectual Disability*/genetics
Micrognathism*/complications
Micrognathism*/genetics
DNA-Binding Proteins/*genetics
Face/*abnormalities
Neck/*abnormalities
Transcription Factors/*genetics
Humans
SCR Disease Name:
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł:
Heart rate variability in neonatal seizures: Investigation and implications for management.
Autorzy:
Statello R; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy; Department of Medicine and Surgery, University of Parma, Parma, Italy.
Carnevali L; Stress Physiology Lab, Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Sgoifo A; Stress Physiology Lab, Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Miragoli M; Department of Medicine and Surgery, University of Parma, Parma, Italy; Departement of Molecular Cardiology, Humanitas Research Hospital, IRCCS, Rozzano MI, Italy. Electronic address: .
Pisani F; Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address: francesco.pisani@unipr.it.
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Źródło:
Neurophysiologie clinique = Clinical neurophysiology [Neurophysiol Clin] 2021 Dec; Vol. 51 (6), pp. 483-492. Date of Electronic Publication: 2021 Nov 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autonomic Nervous System*
Epilepsy*
Brain ; Heart Rate ; Humans ; Infant, Newborn ; Seizures/diagnosis ; Seizures/therapy
Czasopismo naukowe
Tytuł:
Further delineation of PIGB-related early infantile epileptic encephalopathy.
Autorzy:
Schiavoni S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: .
Spagnoli C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Rizzi S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Salerno GG; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Frattini D; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Bergonzini P; Pediatric Neurology Unit, Department of Mother & Child, University Hospital of Modena, Italy.
Pisani F; Child Neuropsychiatry Unit, Neuroscience Division, Medicine & Surgery Department, University of Parma, Parma, Italy.
Fusco C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104268. Date of Electronic Publication: 2021 Jun 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Brain/*physiopathology
Developmental Disabilities/*genetics
Epilepsy/*genetics
Mannosyltransferases/*genetics
Peripheral Nervous System Diseases/*genetics
Brain/diagnostic imaging ; Child ; Developmental Disabilities/diagnosis ; Electroencephalography ; Epilepsy/diagnosis ; Female ; Humans ; Mannosyltransferases/deficiency ; Peripheral Nervous System Diseases/diagnosis ; Exome Sequencing
Czasopismo naukowe
Tytuł:
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Autorzy:
Spagnoli C; Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Fusco C; Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Pisani F; Child Neuropsychiatry Unit, University-Hospital of Parma, 43123 Parma, Italy.
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Źródło:
Genes [Genes (Basel)] 2021 Jul 28; Vol. 12 (8). Date of Electronic Publication: 2021 Jul 28.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Brain Diseases/*genetics
Epilepsy/*genetics
Rett Syndrome/*genetics
Brain Diseases/complications ; Epilepsy/complications ; Humans ; Male ; Rett Syndrome/complications
Czasopismo naukowe
Tytuł:
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
Autorzy:
Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Piccolo B; Child Neuropsychiatric Unit, Mother and Child Department, AOU di Parma, Parma, Italy.
Saccani E; Dipartimento di Medicina Generale e Specialistica, U.O Neurologia, AOU di Parma, Parma, Italy.
Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Pisani F; Child Neuropsychiatric Unit, Medicine and Surgery Department, Neuroscience Section, University of Parma, Parma, Italy.
Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1918-1921. Date of Electronic Publication: 2021 Mar 10.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Atrophy/*genetics
Epilepsy/*genetics
Muscular Diseases/*genetics
N-Acetylglucosaminyltransferases/*genetics
Atrophy/pathology ; Child ; Epilepsy/pathology ; Genetic Predisposition to Disease ; Humans ; Male ; Muscular Diseases/pathology ; Mutation, Missense/genetics
Raport
Tytuł:
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Autorzy:
Spagnoli C; Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Fusco C; Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Percesepe A; Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Parma, 43126 Parma, Italy.
Leuzzi V; Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy.
Pisani F; Child Neuropsychiatry Unit, University Hospital of Parma, 43126 Parma, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 18; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 18.
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Epilepsy/*genetics
Seizures/*genetics
Animals ; Epilepsies, Myoclonic ; Humans ; Infant, Newborn ; Movement Disorders/genetics ; Tumor Suppressor Proteins/genetics ; WW Domain-Containing Oxidoreductase/genetics
Czasopismo naukowe
Tytuł:
Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature.
Autorzy:
Falsaperla R; Neonatal Intensive Care Unit, AOU Policlinico, PO San Marco, University of Catania, Catania, Italy; Unit of Pediatrics and Pediatric Emergency, AOU Policlinico, PO San Marco, University of Catania, Catania, Italy.
Saporito MAN; Neonatal Intensive Care Unit, AOU Policlinico, PO San Marco, University of Catania, Catania, Italy. Electronic address: .
Pisani F; Unit of Child Neuropsychiatry, Department of Neuroscience, University of Parma, Parma, Italy.
Mailo J; Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
Pavone P; Unit of Rare Diseases of the Nervous System, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.
Ruggieri M; Unit of Rare Diseases of the Nervous System, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.
Suppiej A; Department of Medical Sciences, Section of Pediatrics, University of Ferrara, Ferrara, Italy.
Corsello G; Neonatal Intensive Care Unit, Department of Maternal and Child Health, University of Palermo, Palermo, Italy.
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Źródło:
Pediatric neurology [Pediatr Neurol] 2021 Apr; Vol. 117, pp. 4-9. Date of Electronic Publication: 2020 Jun 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Epilepsy/*diagnosis
Ocular Motility Disorders/*diagnosis
Ocular Motility Disorders/*etiology
Diagnosis, Differential ; Electroencephalography ; Epilepsy/complications ; Humans ; Infant ; Infant, Newborn
Czasopismo naukowe
Tytuł:
Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic review.
Autorzy:
Assenza G; Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.
Tombini M; Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.
Lanzone J; Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.
Ricci L; Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.
Di Lazzaro V; Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.
Casciato S; Epilepsy Surgery Center, IRCCS NEUROMED, Via Atinense 18, 86170, Pozzilli (IS), Italy.
Morano A; Epilepsy Unit, Department of Human Neurosciences, 'Sapienza' University of Rome, Rome, Italy.
Giallonardo AT; Epilepsy Unit, Department of Human Neurosciences, 'Sapienza' University of Rome, Rome, Italy.
Di Bonaventura C; Epilepsy Unit, Department of Human Neurosciences, 'Sapienza' University of Rome, Rome, Italy.
Beghi E; Laboratory of Neurological Disorders, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
Ferlazzo E; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Gasparini S; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Giuliano L; Department G.F. Ingrassia, Section of Neurosciences, University of Catania, Catania, Italy.
Pisani F; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Benna P; Department of Neurosciences, University of Torino, Torino, Italy.
Bisulli F; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
De Falco FA; Neurology Unit, Ospedale del Mare, Via Enrico Russo, Naples, Italy.
Franceschetti S; Department of Neurophysiopathology, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
La Neve A; Department of Neurological and Psychiatric Sciences, Centre for Epilepsy, University of Bari, Bari, Italy.
Meletti S; Neurology Unit, OCB Hospital, AOU Modena, Modena, Italy; Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Mostacci B; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Sartucci F; Section of Neurophysiopathology, Department of Clinical and Experimental Medicine, University of Pisa, Azienda Ospedaliero Universitaria Pisana and Neuroscience Institute, CNR, Pisa, Italy.
Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy.
Villani F; Division of Clinical Neurophysiology and Epilepsy Center, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Aguglia U; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Avanzini G; Department of Neurophysiopathology, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
Belcastro V; Child Neuropsychiatry Unit, Department of Mental Health, ASST-Lariana, Como, Italy.
Bianchi A; Division of Neurology, Hospital San Donato Arezzo, Arezzo, Italy.
Cianci V; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Labate A; Institute of Neurology, University Magna Graecia, Germaneto (CZ), Italy.
Magaudda A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Michelucci R; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Verri A; Department of Behavioural Neurology and Laboratory of Cognitive Behavioural Psychology, Fondazione Istituto Neurologico Casimiro Mondino, Pavia, Italy.
Zaccara G; Regional Health Agency of Tuscany, Florence, Italy.
Pizza V; Neurophysiopatology Unit, S. Luca Hospital, Vallo della Lucania (SA), Italy.
Tinuper P; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Di Gennaro G; Epilepsy Surgery Center, IRCCS NEUROMED, Via Atinense 18, 86170, Pozzilli (IS), Italy. .
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Corporate Authors:
Epilepsy Study Group of the Italian Neurological Society
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Nov; Vol. 41 (11), pp. 3075-3084. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji:
Journal Article; Review; Systematic Review
MeSH Terms:
Epilepsy*/therapy
Vagus Nerve Stimulation*
Antidepressive Agents ; Humans ; Quality of Life ; Treatment Outcome
Czasopismo naukowe
Tytuł:
Linking acute symptomatic neonatal seizures, brain injury and outcome in preterm infants.
Autorzy:
Pisani F; Child Neuropsychiatric Unit, Medicine & Surgery Department, Neuroscience Section, University of Parma, Italy. Electronic address: francesco.pisani@unipr.it.
Fusco C; Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: .
Spagnoli C; Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: .
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Źródło:
Epilepsy & behavior : E&B [Epilepsy Behav] 2020 Nov; Vol. 112, pp. 107406. Date of Electronic Publication: 2020 Sep 02.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Brain Injuries*/complications
Epilepsy*
Electroencephalography ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Seizures
Czasopismo naukowe

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