المؤلفون: Silvia Marino, Sung Yoon Cho, Martino Ruggieri, Raffaele Falsaperla, Xena Giada Pappalardo, Simona Domenica Marino, Piero Pavone, Dong Kyu Jin, Giovanni Corsello

المساهمون: Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R.

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Mutation, Missense, Case Report, Nerve Tissue Proteins, Bioinformatics, Risk Assessment, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Seizures, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Exome sequencing, Genetic Association Studies, Benign familial infantile epilepsy, Dysmorphic features, business.industry, Epileptic encephalopathy, lcsh:RJ1-570, Infant, Membrane Proteins, lcsh:Pediatrics, Paroxysmal dyskinesia, medicine.disease, Body Dysmorphic Disorders, Prognosis, PRRT2 mutation, Magnetic Resonance Imaging, 030104 developmental biology, Dyskinesia, medicine.symptom, PRRT2 mutation, Dysmorphic features, Microcephaly, Epileptic encephalopathy, business, Myoclonus, 030217 neurology & neurosurgery, PRRT2, Benign infantile epilepsy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d8907ff257a6cc7da4c8105bac3da61
http://hdl.handle.net/10447/393673

المؤلفون: Falsaperla R; Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy. raffaelefalsaperla@hotmail.com.; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy. raffaelefalsaperla@hotmail.com.; Pediatric Clinic, University of Ferrara, Ferrara, Italy. raffaelefalsaperla@hotmail.com., Sortino V; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy., Marino SD; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy., Collotta AD; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy.; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Gammeri C; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Sipala FM; Department of Drug and Health Sciences, University of Catania, Viale A. Doria 6, 95125, Catania, Italy., Volti GL; Department of Biomedical and Biotechnological Sciences, University of Catania, Via S. Sofia 87, 95125, Catania, Italy., Ruggieri M; Unit of Clinical Pediatrics, Unit of Rare Diseases, AOU 'Policlinico', PO 'G. Rodolico', University of Catania, Catania, Italy., Ronsisvalle S; Department of Drug and Health Sciences, University of Catania, Viale A. Doria 6, 95125, Catania, Italy.

المصدر: Molecular diagnosis & therapy [Mol Diagn Ther] 2024 May; Vol. 28 (3), pp. 329-337. Date of Electronic Publication: 2024 Apr 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation* , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , Tetrabenazine*/therapeutic use, Humans ; Mutation ; Brain Diseases/drug therapy ; Brain Diseases/genetics ; Precision Medicine/methods ; Signal Transduction/drug effects

المؤلفون: Falsaperla R; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy; Unit of Neonatal Intensive Care and Neonatology, Policlinico 'G. Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy. Electronic address: raffaelefalsaperla@hotmail.com., Sciacca M; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy., Collotta AD; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy., Tardino LG; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy., Marino S; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy., Marino SD; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy., Privitera GF; Bioinformatics Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Vitaliti G; General Pediatrics and Pediatric Emergency Department, 'Policlinico G.Rodolico-San Marco' University Hospital, University of Catania, 95100 Catania, Italy. Electronic address: giovitaliti@gmail.com., Ruggieri M; Department of Child and Experimental Medicine, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Italy.

المصدر: Seizure [Seizure] 2024 May; Vol. 118, pp. 156-163. Date of Electronic Publication: 2024 May 11.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

مواضيع طبية MeSH: Pyridoxine*/administration & dosage , Pyridoxine*/therapeutic use , Epilepsy*/drug therapy , Epilepsy*/diagnosis , Anticonvulsants*/administration & dosage, Humans ; Male ; Female ; Infant, Newborn ; Vitamin B Complex/administration & dosage ; Infant

SCR Disease Name: Pyridoxine-dependent epilepsy

المؤلفون: Falsaperla R; Paediatric and Paediatric Emergency Department, University Hospital 'Policlinico-San Marco', Catania, Italy; Unit of Intensive Care and Neonatology, University Hospital 'Policlinico-San Marco', Catania, Italy. Electronic address: raffaelefalsaperla@hotmail.com., Collotta AD; Paediatric and Paediatric Emergency Department, University Hospital 'Policlinico-San Marco', Catania, Italy; Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy. Electronic address: ausilia.collotta.92@gmail.com., Marino SD; Paediatric and Paediatric Emergency Department, University Hospital 'Policlinico-San Marco', Catania, Italy., Sortino V; Paediatric and Paediatric Emergency Department, University Hospital 'Policlinico-San Marco', Catania, Italy; Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy., Leonardi R; Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy., Privitera GF; Department of Mathematics and Computer Science, Department of Clinical and Experimental Medicine, University of Catania, c/o Viale A. Doria, 6, Catania 95125, Italy., Pulvirenti A; Department of Mathematics and Computer Science, Department of Clinical and Experimental Medicine, University of Catania, c/o Viale A. Doria, 6, Catania 95125, Italy., Suppiej A; Medical Science Department (D.O.), Maternal and Child Department, Ferrara University Hospital, University of Ferrara, Italy., Vecchi M; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, Padova University Hospital, Padova, Italy., Verrotti A; Clinical Paediatric, University of Perugia, Hospital SM Della Misericordia, Perugia, Italy., Farello G; Clinical Paediatric, University of Perugia, Hospital SM Della Misericordia, Perugia, Italy., Spalice A; Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Elia M; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute, IRCCS, Troina, Italy., Spitaleri O; Paediatric Neuropsychiatry Unit, Hospital ' S.Marta e S.Venera', Acireale, Italy., Micale M; Paediatric Neuropsychiatry Unit, Maternal and Child Department, Arnas Civico, Palermo, Italy., Mailo J; Division of Paediatric Neurology, University of Alberta, Canada., Ruggieri M; Department of Clinical and Experimental Medicine, Unit of Clinical Pediatrics, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania 95124, Italy.

المصدر: Seizure [Seizure] 2024 Apr; Vol. 117, pp. 115-125. Date of Electronic Publication: 2024 Feb 13.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

مواضيع طبية MeSH: Drug Resistant Epilepsy*/drug therapy , Drug Resistant Epilepsy*/physiopathology , Electroencephalography*, Humans ; Male ; Female ; Retrospective Studies ; Adolescent ; Child ; Child, Preschool ; Methylprednisolone/therapeutic use ; Methylprednisolone/administration & dosage ; Dexamethasone/therapeutic use ; Adult ; Young Adult ; Treatment Outcome ; Anticonvulsants/therapeutic use ; Adrenal Cortex Hormones/therapeutic use ; Hydrocortisone/therapeutic use

المؤلفون: Pavone P; Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, Catania, Italy.; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Catania, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Genova, Italy., Cacciaguerra G; Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, Catania, Italy., Marino SD; Pediatrics and Pediatric Emergency Department, University Hospital, A.U.O 'Policlinico-Vittorio Emanuele', Catania, Italy., Parano E; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Catania, Italy., Pappalardo XG; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Catania, Italy., Falsaperla R; Pediatrics and Pediatric Emergency Department, University Hospital, A.U.O 'Policlinico-Vittorio Emanuele', Catania, Italy., Ruggieri M; Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, Catania, Italy.

المصدر: Frontiers in pediatrics [Front Pediatr] 2023 Sep 08; Vol. 11, pp. 1210272. Date of Electronic Publication: 2023 Sep 08 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Pavone P; Department of Child and Experimental Medicine, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Italy.; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy., Falsaperla R; Unit of Pediatrics and Pediatric Emergency, University Hospital Policlinico 'G. Rodolico-San Marco,' Catania, Italy.; Neonatal Intensive Care Unit, San Marco Hospital, University Hospital Policlinico 'G. Rodolico-San Marco,' Catania, Italy., Ruggieri M; Department of Child and Experimental Medicine, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Italy., Marino SD; Neonatal Intensive Care Unit, San Marco Hospital, University Hospital Policlinico 'G. Rodolico-San Marco,' Catania, Italy., Parano E; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy., Pappalardo XG; National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy.

المصدر: Global medical genetics [Glob Med Genet] 2023 Aug 31; Vol. 10 (3), pp. 234-239. Date of Electronic Publication: 2023 Aug 31 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101769583 Publication Model: eCollection Cited Medium: Internet ISSN: 2699-9404 (Electronic) Linking ISSN: 26999404 NLM ISO Abbreviation: Glob Med Genet Subsets: PubMed not MEDLINE

المؤلفون: Falsaperla R; Pediatric and Pediatric Emergency Department, University Hospital 'Rodolico - San Marco', PO 'San Marco', Via A. Ciampi, 2, 95100, Catania, Italy.; Unit of Intensive Care and Neonatology, University Hospital 'Rodolico - San Marco', PO 'San Marco', Catania, Italy., Marino S; Pediatric and Pediatric Emergency Department, University Hospital 'Rodolico - San Marco', PO 'San Marco', Via A. Ciampi, 2, 95100, Catania, Italy. silvia_marino86@hotmail.it., Vitaliti G; Pediatric and Pediatric Emergency Department, University Hospital 'Rodolico - San Marco', PO 'San Marco', Via A. Ciampi, 2, 95100, Catania, Italy., Bonadies A; Department of Pediatric, AORN Santobono Pausilipon, Naples, Italy., Marino SD; Pediatric and Pediatric Emergency Department, University Hospital 'Rodolico - San Marco', PO 'San Marco', Via A. Ciampi, 2, 95100, Catania, Italy., Pavone P; Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University Hospital 'Rodolico - San Marco', PO 'Rodolico', Catania, Italy., Romano C; Pediatric and Pediatric Emergency Department, University Hospital 'Rodolico - San Marco', PO 'San Marco', Via A. Ciampi, 2, 95100, Catania, Italy., Savoia F; Evaluative Epidemiology-Childhood Cancer Registry of Campania, AORN 'Santobono-Pausilipon Children's Hospital', Naples, Italy., Calì C; Evaluative Epidemiology-Childhood Cancer Registry of Campania, AORN 'Santobono-Pausilipon Children's Hospital', Naples, 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., Lubrano R; Department of Paediatrics, University of Rome 'La Sapienza', Rome, Italy., Tipo V; Department of Pediatric, AORN Santobono Pausilipon, Naples, Italy.

المصدر: Acta neurologica Belgica [Acta Neurol Belg] 2023 Aug; Vol. 123 (4), pp. 1339-1344. Date of Electronic Publication: 2023 Feb 24.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

مواضيع طبية MeSH: Seizures, Febrile*/diagnosis , Seizures, Febrile*/epidemiology , Epilepsy*/epidemiology, Child ; Humans ; Infant ; Retrospective Studies ; Fever ; Hospitals, University

المؤلفون: Falsaperla R; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy.; Neonatal Intensive Care Unit (NICU), AOUP Rodolico-San Marco, Catania, Italy., Marino S; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Moscheo C; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Tardino LG; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Marino SD; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Sciuto C; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Pavone P; Department of Pediatrics, AOUP Rodolico-San Marco, University of Catania, Catania, Italy., Vitaliti G; Pediatric and Pediatric Emergency Department, AOUP Rodolico-San Marco, Catania, Italy., Sullo F; Neonatal Intensive Care Unit (NICU), AOUP Rodolico-San Marco, Catania, Italy., Ruggieri M; Department of Pediatrics, AOUP Rodolico-San Marco, University of Catania, Catania, Italy.

المصدر: Clinical and experimental pediatrics [Clin Exp Pediatr] 2023 Aug; Vol. 66 (8), pp. 350-356. Date of Electronic Publication: 2023 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Korean Pediatric Society Country of Publication: Korea (South) NLM ID: 101761234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2713-4148 (Electronic) Linking ISSN: 27134148 NLM ISO Abbreviation: Clin Exp Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Falsaperla R; Neonatal Intensive Care Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy.; Pediatrics and Pediatric Emergency Operative Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy., Collotta AD; Pediatrics and Pediatric Emergency Operative Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy., Sortino V; Pediatrics and Pediatric Emergency Operative Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy., Marino SD; Pediatrics and Pediatric Emergency Operative Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy., Marino S; Pediatrics and Pediatric Emergency Operative Unit, Azienda Ospedaliero Universitaria Policlinico 'G. Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy., Pisani F; Child Neuropsychiatry Unit, Human Neuroscience Department, Sapienza University of Rome, Italy., Ruggieri M; Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, AOU Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy.

المصدر: CNS & neurological disorders drug targets [CNS Neurol Disord Drug Targets] 2023 Jun 08. Date of Electronic Publication: 2023 Jun 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 101269155 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1996-3181 (Electronic) Linking ISSN: 18715273 NLM ISO Abbreviation: CNS Neurol Disord Drug Targets Subsets: MEDLINE

المؤلفون: Falsaperla R; Neonatology and Neonatal Intensive Care Unit, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy.; Unit of Pediatrics and Pediatric Emergency, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy., Marino SD; Unit of Pediatrics and Pediatric Emergency, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy., Salomone G; Unit of Pediatrics, Lentini Hospital, Siracusa, Italy., Madia F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Marino S; Unit of Pediatrics and Pediatric Emergency, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy., Tardino LG; Unit of Pediatrics and Pediatric Emergency, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy., Scalia B; Neonatology and Neonatal Intensive Care Unit, Hospital Policlinico 'G. Rodolico-San Marco', University of Catania, Catania, Italy., Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

المصدر: Translational pediatrics [Transl Pediatr] 2023 Feb 28; Vol. 12 (2), pp. 292-300. Date of Electronic Publication: 2023 Jan 16.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101649179 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2224-4344 (Print) Linking ISSN: 22244336 NLM ISO Abbreviation: Transl Pediatr Subsets: PubMed not MEDLINE