Si riferisce particolarmente all'ambito epilettologico, della malattie rare e delle malattie neurocutanee e dei disturbi del comportamento alimentare.
Esempi di campi di approfondimento in pubblicazioni a livello internazione dell'anno 2018 e primi 6 mesi 2019
Acute ataxia in paediatric emergency departments: a multicentre Italian study.
Garone G, Reale A, Vanacore N, Parisi P, Bondone C, Suppiej A, Brisca G, Calistri L, Cordelli DM, Savasta S, Grosso S, Midulla F, Falsaperla R, Verrotti A, Bozzola E, Vassia C, Da Dalt L, Maggiore R, Masi S, Maltoni L, Foiadelli T, Rossetti A, Greco C, Marino S, Di Paolantonio C, Papetti L, Urbino AF, Rossi R, Raucci U.
Arch Dis Child. 2019 Apr 4. pii: archdischild-2018-315487. doi: 10.1136/archdischild-2018-315487. [Epub ahead of print]
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM.
J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.
Pediatric epilepsies misdiagnosed as gastrointestinal disorders.
Carbonari G, Tonti G, Di Pisa V, Franzoni E, Cordelli DM.
Epilepsy Behav. 2018 Jun;83:137-139. doi: 10.1016/j.yebeh.2018.03.034. Epub 2018 Apr 26.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.
Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212].
Iannello G, Graziano C, Cenacchi G, Cordelli DM, Zuntini R, Papa V, Magistà AM, Gagliardi M, Procopio R, Quattrone A, Annesi G.
J Neurol Sci. 2018 Feb 15;385:238. doi: 10.1016/j.jns.2017.12.002. Epub 2017 Dec 15. No abstract available.
The pharmacological management of Lennox-Gastaut syndrome and critical literature review.
Verrotti A, Striano P, Iapadre G, Zagaroli L, Bonanni P, Coppola G, Elia M, Mecarelli O, Franzoni E, Liso P, Vigevano F, Curatolo P.
Seizure. 2018 Dec;63:17-25. doi: 10.1016/j.seizure.2018.10.016. Epub 2018 Oct 26. Review.
Pediatric epilepsies misdiagnosed as gastrointestinal disorders.
Carbonari G, Tonti G, Di Pisa V, Franzoni E, Cordelli DM.
Epilepsy Behav. 2018 Jun;83:137-139. doi: 10.1016/j.yebeh.2018.03.034. Epub 2018 Apr 26.
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Iannello G, Graziano C, Cenacchi G, Cordelli DM, Zuntini R, Papa V, Magistà AM, Gagliardi M, Procopio R, Quattrone A, Annesi G.
J Neurol Sci. 2017 Oct 15;381:209-212. doi: 10.1016/j.jns.2017.08.3260. Epub 2017 Sep 1. Erratum in: J Neurol Sci. 2017 Dec 15;:.
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study.
Raucci U, Parisi P, Vanacore N, La Penna F, Ferro V, Calistri L, Bondone C, Midulla F, Suppiej A, Falsaperla R, Cordelli DM, Palmieri A, Verrotti A, Becciani S, Aguzzi S, Mastrangelo M, Pelizza F, Greco F, Carbonari G, Tallone R, Bottone G, Trenta I, Masi S, Villa MP, Reale A.
Eur J Paediatr Neurol. 2017 Sep;21(5):722-729. doi: 10.1016/j.ejpn.2017.05.010. Epub 2017 jun
Central Nervous System Complications in Children Receiving Chemotherapy or Hematopoietic Stem Cell Transplantation.
Cordelli DM, Masetti R, Zama D, Toni F, Castelli I, Ricci E, Franzoni E, Pession A.
Front Pediatr. 2017 May 15;5:105. doi: 10.3389/fped.2017.00105. eCollection 2017. Review.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.
Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.
Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, Tamburrino F, Mongelli P, Percesepe A, Visconti P, Parmeggiani A, Seri M, Graziano C.
Gene. 2019 Jul 20;706:162-171. doi: 10.1016/j.gene.2019.05.007. Epub 2019 May 11.
The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.
Muglia P, Filosi M, Da Ros L, Kam-Thong T, Nardocci F, Trabetti E, Ratti E, Rizzini P, Zuddas A, Bernardina BD, Domenici E; Italian Autism Network.
BMC Psychiatry. 2018 Nov 21;18(1):369. doi: 10.1186/s12888-018-1937-y.
A conserved mechanism drives partition complex assembly on bacterial chromosomes and plasmids.
Debaugny RE, Sanchez A, Rech J, Labourdette D, Dorignac J, Geniet F, Palmeri J, Parmeggiani A, Boudsocq F, Anton Leberre V, Walter JC, Bouet JY.
Mol Syst Biol. 2018 Nov 16;14(11):e8516. doi: 10.15252/msb.20188516.
PMID: 30446599 Free PMC Article
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy.
Contin M, Bisulli F, Santucci M, Riva R, Tonon F, Mohamed S, Ferri L, Stipa C, Tinuper P; Perampanel Study Group.
Epilepsia. 2018 Jul;59(7):e103-e108. doi: 10.1111/epi.14446. Epub 2018 Jun 13.
Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.
Parmeggiani A, Boiani F, Capponi S, Duca M, Angotti M, Pignataro V, Sacrato L, Spinardi L, Vara G, Maltoni L, Cecconi I, Pastore Trossello M, Franzoni E.
Eur J Paediatr Neurol. 2018 Sep;22(5):822-830. doi: 10.1016/j.ejpn.2018.04.016. Epub 2018 May 4.
Surfing on Protein Waves: Proteophoresis as a Mechanism for Bacterial Genome Partitioning.
Walter JC, Dorignac J, Lorman V, Rech J, Bouet JY, Nollmann M, Palmeri J, Parmeggiani A, Geniet F.
Phys Rev Lett. 2017 Jul 14;119(2):028101. doi: 10.1103/PhysRevLett.119.028101. Epub 2017 Jul 13.
Disability and inclusive education in an Italian Region: analysis of the data for the school year 2012-2013.
Lanzarini E, Parmeggiani A.
Minerva Pediatr. 2017 Feb 17. doi: 10.23736/S0026-4946.17.04747-8. [Epub ahead of print]
Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.
Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G.
Neurol Sci. 2019 Mar;40(3):447-456. doi: 10.1007/s10072-018-3666-x. Epub 2018 Dec 12. Review.
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica).
Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25.
Management of psychogenic non-epileptic seizures: a multidisciplinary approach.
Gasparini S, Beghi E, Ferlazzo E, Beghi M, Belcastro V, Biermann KP, Bottini G, Capovilla G, Cervellione RA, Cianci V, Coppola G, Cornaggia CM, De Fazio P, De Masi S, De Sarro G, Elia M, Erba G, Fusco L, Gambardella A, Gentile V, Giallonardo AT, Guerrini R, Ingravallo F, Iudice A, Labate A, Lucenteforte E, Magaudda A, Mumoli L, Papagno C, Pesce GB, Pucci E, Ricci P, Romeo A, Quintas R, Sueri C, Vitaliti G, Zoia R, Aguglia U.
Eur J Neurol. 2019 Feb;26(2):205-e15. doi: 10.1111/ene.13818. Epub 2018 Nov 29. Review.