. 2024 Oct;9(5):1857-1867.

doi: 10.1002/epi4.13020. Epub 2024 Aug 23.

Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity

Antonella Riva¹, Antonietta Coppola², Francesca Bisulli^{3

4}, Alberto Verrotti⁵, Irene Bagnasco⁶, Maurizio Elia⁷, Francesca Darra⁸, Simona Lattanzi⁹, Stefano Meletti^{10

11}, Angela La Neve¹², Giancarlo Di Gennaro¹³, Isabella Brambilla^{14

15

16

17}, Katia Santoro¹⁸, Tommaso Prisco¹⁹, Francesca Macari²⁰, Antonio Gambardella²¹, Carlo di Bonaventura²², Simona Balestrini^{23

24

25}, Carla Marini²⁶, Dario Pruna²⁷, Giuseppe Capovilla^{28

29}, Nicola Specchio³⁰, Giuseppe Gobbi^{18

19

20}, Pasquale Striano^{1

31}; iRARE Study Group

Collaborators, Affiliations

Collaborators

iRARE Study Group:
Bartolini Emanuele, Bonanni Paolo, Boni Antonella, Briatore Eleonora, Canafoglia Laura, Del Negro Ilaria, Fortunato Francesco, Galli Rosita, Giordano Lucio, Giugno Alessia, Giuliano Loretta, Lavra Loredana, Luchetti Anna, Maretti Michela, Marino Simona Domenica, Mastrangelo Mario, Messana Tullio, Parente Eliana, Pellino Giuditta, Peruzzi Cinzia, Piccioli Marta, Pietrafusa Nicola, Pironi Virginia, Prezioso Giovanni, Prisco Giulia, Pulitano Patrizia, Ragona Francesca, Rizzi Romana, Rosati Eleonora, Ruta Maria Rosita, Sarajlija Jasenka, Spagnoli Carlotta, Spalice Alberto, Terrone Gaetano, Trabacca Antonio, Valerio Massimo, Zucca Claudio

Affiliations

¹ Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
² Epilepsy Center, Department of Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University of Naples, Naples, Italy.
³ IRCCS Istituto Delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE, Bologna, Italy.
⁴ Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
⁵ Department of Pediatrics, University of Perugia, Perugia, Italy.
⁶ Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, Turin, Italy.
⁷ Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy.
⁸ Unit of Child Neuropsychiatry, Department of Engineering for Innovation Medicine, University of Verona, Full Member of the ERN EpiCARE Verona, Verona, Italy.
⁹ Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.
¹⁰ Neurophysiology Unit and Epilepsy Centre, OCB Hospital, AOU Modena, Modena, Italy.
¹¹ Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.
¹² Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
¹³ IRCCS NEUROMED, Pozzilli, Isernia, Italy.
¹⁴ Dravet Italia Onlus, Verona, Italy.
¹⁵ Epag ERN EpiCare, Verona, Italy.
¹⁶ Research Center For Pediatric Epilepsies (CREP), Department of Surgery, Dentistry, Paediatrics and Gynecology, University of Verona, Verona, Italy.
¹⁷ Alleanza Epilessie Rare e Complesse, Italy.
¹⁸ Associazione Famiglie LGS Italia, Correggio, Italy.
¹⁹ Or.S.A, Treviso, Italy.
²⁰ Associazione Sclerosi Tuberosa, Rome, Italy.
²¹ Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
²² Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
²³ Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
²⁴ University of Florence, Florence, Italy.
²⁵ Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
²⁶ Child Neurology and Psychiatry Unit Children's Hospital "G. Salesi" Azienda Ospedaliero-Universitaria Delle Marche Ancona, Ancona, Italy.
²⁷ Pediatric Neurology and Epileptology Unit, Pediatric Department, ARNAS G. Brotzu/ASL, Cagliari, Italy.
²⁸ Child Neuropsychiatry Department, Epilepsy Center, "C. Poma Hospital", Mantova, Italy.
²⁹ Fondazione Poliambulanza, Brescia, Italy.
³⁰ Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
³¹ IRCCS Istituto "Giannina Gaslini," Full Member of the ERN EpiCARE, Genoa, Italy.

PMID: 39176980
PMCID: PMC11450651
DOI: 10.1002/epi4.13020

Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity

Antonella Riva et al. Epilepsia Open. 2024 Oct.

. 2024 Oct;9(5):1857-1867.

doi: 10.1002/epi4.13020. Epub 2024 Aug 23.

Authors

Collaborators

iRARE Study Group:
Bartolini Emanuele, Bonanni Paolo, Boni Antonella, Briatore Eleonora, Canafoglia Laura, Del Negro Ilaria, Fortunato Francesco, Galli Rosita, Giordano Lucio, Giugno Alessia, Giuliano Loretta, Lavra Loredana, Luchetti Anna, Maretti Michela, Marino Simona Domenica, Mastrangelo Mario, Messana Tullio, Parente Eliana, Pellino Giuditta, Peruzzi Cinzia, Piccioli Marta, Pietrafusa Nicola, Pironi Virginia, Prezioso Giovanni, Prisco Giulia, Pulitano Patrizia, Ragona Francesca, Rizzi Romana, Rosati Eleonora, Ruta Maria Rosita, Sarajlija Jasenka, Spagnoli Carlotta, Spalice Alberto, Terrone Gaetano, Trabacca Antonio, Valerio Massimo, Zucca Claudio

Affiliations

¹ Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
² Epilepsy Center, Department of Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University of Naples, Naples, Italy.
³ IRCCS Istituto Delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE, Bologna, Italy.
⁴ Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
⁵ Department of Pediatrics, University of Perugia, Perugia, Italy.
⁶ Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, Turin, Italy.
⁷ Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy.
⁸ Unit of Child Neuropsychiatry, Department of Engineering for Innovation Medicine, University of Verona, Full Member of the ERN EpiCARE Verona, Verona, Italy.
⁹ Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.
¹⁰ Neurophysiology Unit and Epilepsy Centre, OCB Hospital, AOU Modena, Modena, Italy.
¹¹ Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.
¹² Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
¹³ IRCCS NEUROMED, Pozzilli, Isernia, Italy.
¹⁴ Dravet Italia Onlus, Verona, Italy.
¹⁵ Epag ERN EpiCare, Verona, Italy.
¹⁶ Research Center For Pediatric Epilepsies (CREP), Department of Surgery, Dentistry, Paediatrics and Gynecology, University of Verona, Verona, Italy.
¹⁷ Alleanza Epilessie Rare e Complesse, Italy.
¹⁸ Associazione Famiglie LGS Italia, Correggio, Italy.
¹⁹ Or.S.A, Treviso, Italy.
²⁰ Associazione Sclerosi Tuberosa, Rome, Italy.
²¹ Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
²² Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
²³ Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
²⁴ University of Florence, Florence, Italy.
²⁵ Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
²⁶ Child Neurology and Psychiatry Unit Children's Hospital "G. Salesi" Azienda Ospedaliero-Universitaria Delle Marche Ancona, Ancona, Italy.
²⁷ Pediatric Neurology and Epileptology Unit, Pediatric Department, ARNAS G. Brotzu/ASL, Cagliari, Italy.
²⁸ Child Neuropsychiatry Department, Epilepsy Center, "C. Poma Hospital", Mantova, Italy.
²⁹ Fondazione Poliambulanza, Brescia, Italy.
³⁰ Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
³¹ IRCCS Istituto "Giannina Gaslini," Full Member of the ERN EpiCARE, Genoa, Italy.

PMID: 39176980
PMCID: PMC11450651
DOI: 10.1002/epi4.13020

Abstract

Objective: Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neuropediatricians, and patient advocacy representatives.

Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics. A final 32-member expert panel, representing diverse regions of Italy, validated these statements through a two-round voting process, with consensus defined as an average score ≥7.

Results: Sixteen statements reached a consensus, emphasizing the necessity for epidemiological studies to ascertain the true prevalence of rare epilepsies. Etiology emerged as a crucial factor influencing therapeutic strategies and outcome prediction, with particular concern regarding prolonged and tonic-clonic seizures. The importance of early implementation of specific drugs and non-pharmacological interventions in the treatment algorithm for developmental and epileptic encephalopathies (DEEs) was underscored. Multidisciplinary care involving experts with diverse skills was deemed essential, emphasizing non-seizure outcomes in adolescence and adulthood.

Significance: This national consensus underscores the imperative for personalized, comprehensive, and multidisciplinary management of rare epilepsies/DEEs. It advocates for increased research, particularly in epidemiology and therapeutic approaches, to inform clinical decision-making and healthcare policies, ultimately enhancing patients' outcomes.

Plain language summary: The modified Delphi method is broadly used to evaluate debated topics. In this work, we sought the consensus on integrated and social care in epilepsy management. Both representatives of high-level epilepsy centers and patients' caregivers were directly involved.

Keywords: DEEs; Delphi; management; multidisciplinarity; rare epilepsies.

PubMed Disclaimer

Conflict of interest statement

AR has received honoraria and travel grants from PTC Therapeutics, Kolfarma Srl, UCB, Jazz Pharmaceuticals and Proveca Ltd. AC received speaker's honoraria from UCB, Angelini, and Jazz Pharmaceuticals, and has served as a scientific consultant for advisory boards for Takeda, UCB, and Jazz Pharma. FB received honoraria from UCB and Angelini Pharma, and has served for scientific advisory boards for Takeda, Angelini Pharma and UCB. SL has received speaker's or consultancy fees from Angelini Pharma, Eisai, GW Pharmaceuticals, Medscape, and UCB Pharma and has served on advisory boards for Angelini Pharma, Arvelle Therapeutics, BIAL, Eisai, GW Pharmaceuticals and UCB Pharma outside the submitted work. SL received research grant support from the Ministry of Health and the Ministry of University and Research outside the submitted work. SM received research grant support from the Ministry of health (MOH); has received personal compensation as scientific advisory board member for UCB, Jazz pharmaceuticals, and EISAI. IB received unconditional grants/reimbursements from Dravet Italia Onlus (of which she is president), Jazz Pharmaceuticals, UCB, Takeda and Biocodex. NS has served on scientific advisory boards for GW Pharma, BioMarin, Arvelle, Marinus, and Takeda; has received speaker honoraria from Eisai, BioMarin, Livanova, Sanofi, Jazz Pharmaceuticals, UCB, Takeda; has served as an investigator for Zogenix, Marinus, Biomarin, UCB, Roche. PS received speaker's honoraria from UCB, Angelini, and Jazz Pharmaceuticals, and has served as a scientific consultant for advisory boards for Biomarin, Takeda, Proveca, UCB, and Jazz Pharmaceuticals. None of the other authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Figures

**FIGURE 1**
Graphical representation of the mean ± SD scores for each statement. Box‐and‐whisker plots help visualize the summary of the consensus for each statement. Statements are in numerical order (#number) and divided based on the “area” they belong to. Two different colors are used to represent the first and second voting round.

See this image and copyright information in PMC

References

1. epi‐care.eu
1. Scheffer IE, Liao J. Deciphering the concepts behind “epileptic encephalopathy” and “developmental and epileptic encephalopathy”. Eur J Paediatr Neurol. 2020;24:11–14. 10.1016/j.ejpn.2019.12.023 - DOI - PubMed
1. Specchio N, Curatolo P. Developmental and epileptic encephalopathies: what we do and do not know. Brain. 2021;144(1):32–43. 10.1093/brain/awaa371 - DOI - PubMed
1. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An‐Gourfinkel I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000;24:343–345. 10.1038/74159 - DOI - PubMed
1. Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, et al. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022;145(11):3816–3831. 10.1093/brain/awac210 - DOI - PMC - PubMed

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Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity

Collaborators

Affiliations

Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

LinkOut - more resources

Full Text Sources

Medical