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SOD Neuropsichiatria Infantile

Area: MEDICA
altri reparti AOU
  1. Marini C, Giardino M Novel treatments in epilepsy guided by genetic diagnosis. Br J Clin Pharmacol. 2022 Jun;88(6):2539-2551. doi: 10.1111/bcp.15139. C32
  2. Monti Guarnieri N, Pompilio A, Marini C, Ortenzi GB, Andresciani E, Garzone AMF, Ieracitano MC, Polidori C. A pharmacovigilance study on antiepileptic medications in a paediatric hospital in Italy. Eur J Hosp Pharm. 2022 Apr 11:ejhpharm-2021-003053. doi: 10.1136/ejhpharm-2021-003053. Online ahead of print.
  3. Costa AM, Lo Barco T, Spezia E, Conti V, Roli L, Marini L, Minghetti S, Caramaschi E, Pietrangelo L, Pecoraro L, D'Achille F, Accorsi P, Trenti T, Melani F, Marini C, Guerrini R, Darra F, Bergonzini P, Biagini G. Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies. J Pers Med. 2022 Mar 25;12(4):527. doi: 10.3390/jpm12040527.
  4. Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. eCollection 2021 Apr.
  5. Guerrini R, Marini C. SLC32A1: One More Gene Contributing to the Solution of the Genetic Generalized Epilepsies Mystery. Neurology. 2021 May 4;96(18):831-832. doi: 10.1212/WNL.0000000000011854. Epub 2021 Mar 23.
  6. Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations. J Neurol Sci. 2021 May 15;424:117409. doi: 10.1016/j.jns.2021.117409. Epub 2021 Mar 20.
  7. Porro A, Abbandonato G, Veronesi V, Russo A, Binda A, Antolini L, Granata T, Castellotti B, Marini C, Moroni A, DiFrancesco JC, Rivolta I. Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients? Prog Biophys Mol Biol. 2021 Nov;166:147-155. doi: 10.1016/j.pbiomolbio.2021.07.008.
  8. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. Brain. 2021 Aug 25:awab321. doi: 10.1093/brain/awab321.
  9. Maticardi S. De Liso E. Freri E, et al Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16.
  10. Cesaroni E, Matricardi S, Cappanera S, Marini C.First reported case of an inherited PACS2 pathogenic variant with variable expression. Epileptic Disord. 2022 Feb 28. doi: 10.1684/epd.2022.1417. Online ahead of print.
  11. Sass JO, Behringer S, Fernando M, Cesaroni E, et al. d-Glycerate kinase deficiency in a neuropediatric patient. Brain Dev. 2020;42(2):226-230.
  12. Nosadini M, Granata T, Matricardi S, et al. Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis. Dev Med Child Neurol. 2019;61(9):1101-1107.
  13. Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0.
  14. Trivisano M, Pietrafusa N, Terracciano A, Marini C, et al Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study. Epilepsia. 2018;59(12):2260-2271.
  15. Epileptic phenotypes in children with early-onset mitochondrial diseases. Matricardi S, Canafoglia L, Ardissone A, et al. Acta Neurologica 2019;140(3):184-193.
  16. Gardella E, Marini C, Trivisano M, et al. The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology. 2018;9112):e1112-e1124.
  17. Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019;86(6):821-831.
  18. Marini C, Porro A, Rastetter A, et al. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018;141(11):3160-3178
  19. Mei D, Cetica V, Marini C, Guerrini R Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.. Epilepsia. 2019;60 Suppl 3:S2-S7.
  20. Johannesen K, Marini C, Pfeffer S, et al Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016;87(11):1140-51.
  21. Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain. 2019;142(12):3876-3891.
  22. Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, et al. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 Jun 1;141(6):1703-1718.
  23. Parrini E, Marini C, Mei D, et al. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017;38(2):216-225.
  24. Marini C, Romoli M, Parrini E, et al. Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. Neurol Genet. 2017;3(6):e206.
  25. Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017 Mar 14;88(11):1037-1044.
  26. Guerrini R, Parrini E, Marini C, Mei. What is the role of next generation sequencing in status epilepticus? Epilepsy Behav. 2019;101:106373+C33
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