Study of etiologic, clinical, neurophysiological, medical or surgical aspects of the complex, severe and disabling epilepsy of the child and the adult

Description

Epilepsy has a prevalence of about 0.8%. Approximately 30-40% of epilepsy is of resistant to antiepileptic drugs with high prevalence of psychiatric or motor comorbidity. In our epileptic unit we follow up to approximately 800 patients with epilepsy resistant to antiepileptic drugs. We have in follow up about 50 patients who underwent epilepsy surgery and about 30 patients implanted with vagal stimulation. The etiology of pharmacoresistant epilepsy is often malformative or genetic in the field of rare diseases. The major rare diseases of our interest are: Angelman syndrome, IDIC 15 syndrome, Dravet syndrome, Lennox-Gastaut syndrome; Chromosomal rearrangements, Tuberous Sclerosis and Sturge-Weber Syndrome, Pitt-Hopkins syndrome, Mowat-Wilson syndrome, Rett syndrome, cerebral malformations.

Clinical research is mainly based on the clinical-neurophysiological and rehabilitative study of epilepsies, particularly the complex, pharmacoresistant and disabling forms, often part of a malformative picture or in rare diseases.

Main topics of research:

• Neuropsychological, neurophysiological, structural and genetic correlations of complex, pharmacoresistant and disabling epilepsy
• SUDEP
• non-pharmacological treatments in drug-resistant epilepsy, particularly epilepsy surgery
• genotype / phenotype and PDTA correlations in rare syndromes
• neuropsychological rehabilitation treatments in epilepsy

Over the next three years, we will advance all aspects of the research both by submitting projects that can be funded through third parties and through the observational study tool. However, the main, strategic approach will be to epileptic surgery and surgical applications of high-density EEG. This is an advanced technology for the study of neurological and psychiatric disorders that at this time in Italy have few other centers.

Selected publications

1. “Myoclonic Absences” and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype. Mandarano R, Danieli A, Faletra F, Michieletto P, Montanaro D, Bonanni P. J Mol Genet Med 2017 11: 272 doi:10.4172/1747-0862.1000272
2. Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. Sueri C, Ferlazzo E, Elia M, Bonanni P, Randazzo G, Gasparini S, D'Agostino T, Sapone AR, Ascoli M, Bellavia MA, Cianci V, Gambardella A, Labate A, Aguglia U. Epilepsy Behav. 2017 Oct;75:225-229. doi: 10.1016/j.yebeh.2017.07.041. Epub 2017 Aug 19.
3. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.
4. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients. Bonanni P, Casellato S, Fabbro F, Negrin S. Am J Med Genet A. 2017 Oct;173(10):2753-2757. doi: 10.1002/ajmg.a.38373. Epub 2017 Aug 16.
5. Electrical status epilepticus during sleep in Mowat-Wilson syndrome. Bonanni P, Negrin S, Volzone A, Zanotta N, Epifanio R, Zucca C, Osanni E, Petacchi E, Fabbro F. Brain Dev. 2017 Oct;39(9):727-734. doi: 10.1016/j.braindev.2017.04.013. Epub 2017 May 10.
6. Clinical implications of interictal epileptiform discharges in cognitive functioning in CEC syndrome with evolution into epileptic encephalopathy. Bonanni P, Negrin S, Antoniazzi L, Da Rold M, Fabbro F, Serafini A. Neurocase. 2017 Sep 20:1-9. doi: 10.1080/13554794.2017.1380202. [Epub ahead of print]
7. From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D. PLoS One. 2016 Sep 14;11(9):e0162817. doi: 10.1371/journal.pone.0162817. eCollection 2016.
8. Precipitation of Carbamazepine-Controlled Seizures Due to Low-Dose Risperidone in a Child: A Conspiracy to Unbalance Blood Electrolytes. Pozzi M, Pineschi R, Bonanni P, Pellegri A, Clementi E. J Clin Psychopharmacol. 2016 Dec;36(6):729-730. No abstract available.
9. Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study. De Liso P, Vigevano F, Specchio N, De Palma L, Bonanni P, Osanni E, Coppola G, Parisi P, Grosso S, Verrotti A, Spalice A, Nicita F, Zamponi N, Siliquini S, Giordano L, Martelli P, Guerrini R, Rosati A, Ilvento L, Belcastro V, Striano P, Vari MS, Capovilla G, Beccaria F, Bruni O, Luchetti A, Gobbi G, Russo A, Pruna D, Tozzi AE, Cusmai R. Epilepsy Res. 2016 Aug 18;127:93-100. doi: 10.1016/j.eplepsyres.2016.08.021
10. The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families. Cianchetti C, Messina P, Pupillo E, Crichiutti G, Baglietto MG, Veggiotti P, Zamponi N, Casellato S, Margari L, Erba G, Beghi E; TASCA study group. Seizure. 2015 Jan;24:93-101. doi: 10.1016/j.seizure.2014.09.003. Epub 2014 Sep 16.
11. Neurophysiological and clinical findings on Nodding Syndrome in 21 South Sudanese children and a review of the literature. de Polo G, Romaniello R, Otim A, Benjamin K, Bonanni P, Borgatti R. Seizure. 2015 Sep;31:64-71. doi: 10.1016/j.seizure.2015.07.006. Epub 2015 Jul 20. Review.
12. Anterior thalamic nucleus deep brain Stimulation (DBS) for drug-resistant complex partial seizures (CPS) with or without generalization: long-term evaluation and predictive outcome. Piacentino M, Durisotti C, Garofalo PG, Bonanni P, Volzone A, Ranzato F, Beggio G. Acta Neurochir (Wien). 2015 Sep;157(9):1525-32; discussion 1532. doi: 10.1007/s00701-015-2498-1. Epub 2015 Jul 8.
13. Satisfaction with drugs in children and adolescent with newly diagnosed and chronic epilepsy. Epilepsy Research 2012 Feb 29. [Epub ahead of print]. Beghi E, Messina P, Pupillo E, Crichiutti G, Baglietto MG, Veggiotti P, Zamponi N, Casellato S, Cianchetti C and the TASCA Group. IF (5 anni)=2.293
14. Non convulsive epileptic status of frontal origin in Hunter syndrome successfully treated with Ethosuxumide. Developmental Medicine and Child Neurology 2012;54(10):961-4. Bonanni P, Gubernale M, Martinez F, Randazzo G, Milantoni L, Martinuzzi A, Boniver C, Vecchi M, Scarpa M. IF(5anni)= 3.668
15. Nocturnal frontal lobe epilepsy in mucopolysaccharidosis. Brain & Development. 2014 Oct;36(9): pp 826-9. doi:10.1016/j.braindev.2013.12.002. Epub 2014 Jan 18. Bonanni P, Volzone A, Randazzo G, Antoniazzi A, Rampazzo A, Scarpa M, Nobili L IF (5 anni)=1.678
16. Ophthalmic findings in Angelman syndrome. Journal of AAPOS. 2011 Apr;15(2):158-61. Michieletto P, Bonanni P, Pensiero S IF(5 anni) = 1.130
17. The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria. American Journal of Medical Genetics. Jul;155(7):1536-45, 2011. Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. IF (5 anni)= 5.668
18. Functioning and disability in patients with Angelman syndrome: utility of the ICF-CY framework. Disability & Rehabilitation, 31(1): S121-127, 2009. Bonanni P, Gobbo AM, Nappi S, Nogarol A, Moret O, Randazzo G, Martinuzzi A IF=1.919
19. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Archives of Neurology 65(4):489-94, 2008. Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT IF= 7.419

Partnerships

• Dr. Tassi, Dr. Mai, Dr. Lo Russo. Centro di chirurgia dell’epilessia “C. Munari”. Ospedale Niguarda. Milano
• Prof. Fabbro. Dr. Crescentini. Università di Udine
• Dr. Piacentino, Dr. Volpin. UOC di Neurochirurgia. Ospedale San Bortolo. Vicenza
• Dr. Montanaro, Dr. Canapicchi. UO Neuroradiologia. Fondazione Toscana G. Monasterio. Pisa