Search

Your search keyword '"Darra, Francesca"' showing total 376 results
Start Over Author "Darra, Francesca"
376 results on '"Darra, Francesca"'

2. Clinical spectrum of STX1B-related epileptic disorders.

Author

Cilio, Maria, Van Paesschen, Wim, Svendsen, Lene, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair, Vavoulis, Dimitris, Knight, Samantha, Taylor, Jenny, Canevini, Maria, Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric, Kluger, Gerhard, Lowenstein, Daniel, Weckhuysen, Sarah, Pal, Deb, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys, Rees, Mark, Lesca, Gaetan, Sisodiya, Sanjay, Weber, Yvonne, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian, Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke, Balestrini, Simona, Helbig, Katherine, Altuzarra, Cecilia, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce, and Numis, Adam

Subjects
Adolescent, Anticonvulsants, Child, Child, Preschool, Developmental Disabilities, Drug Resistant Epilepsy, Electroencephalography, Epilepsies, Partial, Epileptic Syndromes, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Learning Disabilities, Loss of Function Mutation, Male, Mutation, Missense, Phenotype, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Young Adult
Abstract

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

Published
2019

3. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andreas, Ciliberto, Michael A., Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D., Moosa, Ahsan N., Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R., Renfroe, Ben, Saneto, Russell P., Scheffer, Ingrid E., Sogawa, Yoshimi, Suter, Bernhardt, Sweney, Matthew T., Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angus, Wirrell, Elaine C., Zafar, Muhammad, Zolnowska, Marta, Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, and Devinsky, Orrin

Published
2022
Full Text
View/download PDF

4. Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity.

Author

Riva, Antonella, Coppola, Antonietta, Bisulli, Francesca, Verrotti, Alberto, Bagnasco, Irene, Elia, Maurizio, Darra, Francesca, Lattanzi, Simona, Meletti, Stefano, La Neve, Angela, Di Gennaro, Giancarlo, Brambilla, Isabella, Santoro, Katia, Prisco, Tommaso, Macari, Francesca, Gambardella, Antonio, di Bonaventura, Carlo, Balestrini, Simona, Marini, Carla, and Pruna, Dario

Subjects
PATIENT advocacy, SEIZURES (Medicine), PEOPLE with epilepsy, THERAPEUTICS, PHYSICIANS
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. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Author

Raviglione, Federico, Douzgou, Sofia, Scala, Marcello, Mingarelli, Alessia, D'Arrigo, Stefano, Freri, Elena, Darra, Francesca, Giglio, Sabrina, Bonaglia, Maria C, Pantaleoni, Chiara, Mastrangelo, Massimo, Epifanio, Roberta, Elia, Maurizio, Saletti, Veronica, Morlino, Silvia, Vari, Maria Stella, De Liso, Paola, Pavaine, Julija, Spaccini, Luigina, Cattaneo, Elisa, Gardella, Elena, Møller, Rikke S, Marchese, Francesca, Colonna, Clara, Gandioli, Claudia, Gobbi, Giuseppe, Ram, Dipak, Palumbo, Orazio, Carella, Massimo, Germano, Michele, Tonduti, Davide, De Angelis, Diego, Caputo, Davide, Bergonzini, Patrizia, Novara, Francesca, Zuffardi, Orsetta, Verrotti, Alberto, Orsini, Alessandro, Bonuccelli, Alice, De Muto, Maria Carmela, Trivisano, Marina, Vigevano, Federico, Granata, Tiziana, Bernardina, Bernardo Dalla, Tranchina, Antonia, and Striano, Pasquale

Published
2021
Full Text
View/download PDF

8. Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

Author

Battaglia, Domenica, Chieffo, Daniela, Lucibello, Simona, Marini, Carla, Sibilia, Valentina, Mei, Davide, Darra, Francesca, Offredi, Francesca, Fontana, Elena, Specchio, Nicola, Cappelletti, Simona, Granata, Tiziana, Ragona, Francesca, Patrini, Mara, Baglietto, Maria G., Prato, Giulia, Ferrari, Annarita, Vigevano, Federico, Mercuri, Eugenio, Bernardina, Bernardo Dalla, Guerrini, Renzo, Dravet, Charlotte, and Guzzetta, Francesco

Published
2021
Full Text
View/download PDF

9. GABRA1-related disorders:from genetic to functional pathways

Author

Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Fenger, Christina D, Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I, Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M, Fazeli, Walid, Wouters, Leen, Miranda, Maria J, Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S, Ahring, Philip K, Gardella, Elena, Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Fenger, Christina D, Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I, Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M, Fazeli, Walid, Wouters, Leen, Miranda, Maria J, Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S, Ahring, Philip K, and Gardella, Elena

Abstract

Objective Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyse the electro-clinical features and the functional effects of GABRA1-variants to establish genotype–phenotype correlations. Methods Genetic and electro-clinical data of 27 individuals (22 unrelated and 2 families) harbouring 20 different GABRA1 variants were collected and accompanied with functional analysis of 19 variants. Results Individuals in this cohort could be assigned into different clinical subgroups based on the functional effect of their variant and its structural position within the GABRA1 subunit. A homogenous phenotype with mild cognitive impairment and infantile-onset epilepsy (focal seizures, fever sensitivity and EEG posterior epileptiform discharges) was described for variants in the extra-cellular domain and the small transmembrane loops. These variants displayed loss-of-function (LoF) effects and the patients generally had a favourable outcome. A more severe phenotype was associated with variants in the pore-forming transmembrane helices. These variants displayed either gain-of-function (GoF) or LoF effects. GoF-variants were associated with severe early-onset neurodevelopmental disorders, including early infantile developmental and epileptic encephalopathy. Interpretation Our data expand the genetic and phenotypic spectrum of GABRA1-epilepsies and permit to delineate specific sub-phenotypes for LoF and GoF variants, though the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the patho-mechanism and precision medicine approach in, OBJECTIVE: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyse the electro-clinical features and the functional effects of GABRA1-variants to establish genotype-phenotype correlations.METHODS: Genetic and electro-clinical data of 27 individuals (22 unrelated and 2 families) harbouring 20 different GABRA1 variants were collected and accompanied with functional analysis of 19 variants.RESULTS: Individuals in this cohort could be assigned into different clinical subgroups based on the functional effect of their variant and its structural position within the GABRA1 subunit. A homogenous phenotype with mild cognitive impairment and infantile-onset epilepsy (focal seizures, fever sensitivity and EEG posterior epileptiform discharges) was described for variants in the extra-cellular domain and the small transmembrane loops. These variants displayed loss-of-function (LoF) effects and the patients generally had a favourable outcome. A more severe phenotype was associated with variants in the pore-forming transmembrane helices. These variants displayed either gain-of-function (GoF) or LoF effects. GoF-variants were associated with severe early-onset neurodevelopmental disorders, including early infantile developmental and epileptic encephalopathy.INTERPRETATION: Our data expand the genetic and phenotypic spectrum of GABRA1-epilepsies and permit to delineate specific sub-phenotypes for LoF and GoF variants, though the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the patho-mechanism and precision medicine approach in GABRA1-related di

Published
2024

10. Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

Author

De Giorgis, Valentina, Pasca, Ludovica, Aznar‐Lain, Gemma, Bibic, Irena, Bibic, Vedrana, Darra, Francesca, Dianin, Alice, Dressler, Anastasia, Jonsson, Henna, Komulainen‐Ebrahim, Jonna, Kverneland, Magnhild, Molteberg, Ellen, Ragona, Francesca, de Saint‐Martin, Anne, Varesio, Costanza, Cross, J. Helen, Baumgartner, Tobias, Bjellvi, Johan, Brunklaus, Andreas, and Buttle, Janette

Subjects
PATIENTS' families, INTERNET surveys, EVERYDAY life, MEDICAL personnel, EPILEPSY
Abstract

The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance. To highlight the unmet needs for KDT services, the ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on KDT implementation and utilization, addressing the following topics: Use and completeness of guidelines and protocols; assessment of compliance and outcome parameters, sustainability and inclusivity in daily life. Consistently reported unmet needs included the lack of psychological support and resources to measure and improve adherence to KDT, the lack of inclusion strategies, and shared guidelines and protocols adapting to specific needs. Future interventions should focus primarily on educational and informative measures together with creation of shared protocols for complex care. Plain Language Summary: This study provides the results of a survey compiled by clinicians and patients representatives belonging to ERN Epicare, designed to unravel unmet needs from both patients' and healthcare practitioners' perspectives during ketogenic dietary therapies (KDT) provision. Importantly, results show the need to create new shared protocols and guidelines meant for KDT use in complex care situations and to develop future strategies initiatives to support patients improving their social inclusivity. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

13. Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9‐year chart review study

Author

Bortoletto, Riccardo, primary, Bassani, Lorenzo, additional, Garzitto, Marco, additional, Lamberti, Marco, additional, Simonati, Alessandro, additional, Darra, Francesca, additional, Bhattacharyya, Sagnik, additional, Comacchio, Carla, additional, Balestrieri, Matteo, additional, Arcangeli, Donatella, additional, and Colizzi, Marco, additional

Published
2023
Full Text
View/download PDF

14. GABRA1‐Related Disorders: From Genetic to Functional Pathways

Author

Musto, Elisa, primary, Liao, Vivian W. Y., additional, Johannesen, Katrine M., additional, Fenger, Christina D., additional, Lederer, Damien, additional, Kothur, Kavitha, additional, Fisk, Katrina, additional, Bennetts, Bruce, additional, Vrielynck, Pascal, additional, Delaby, Delphine, additional, Ceulemans, Berten, additional, Weckhuysen, Sarah, additional, Sparber, Peter, additional, Bouman, Arjan, additional, Ardern‐Holmes, Simone, additional, Troedson, Christopher, additional, Battaglia, Domenica I., additional, Goel, Himanshu, additional, Feyma, Timothy, additional, Bakhtiari, Somayeh, additional, Tjoa, Linda, additional, Boxill, Martin, additional, Demina, Nina, additional, Shchagina, Olga, additional, Dadali, Elena, additional, Kruer, Michael, additional, Cantalupo, Gaetano, additional, Contaldo, Ilaria, additional, Polster, Tilman, additional, Isidor, Bertrand, additional, Bova, Stefania M., additional, Fazeli, Walid, additional, Wouters, Leen, additional, Miranda, Maria J., additional, Darra, Francesca, additional, Pede, Elisa, additional, Le Duc, Diana, additional, Jamra, Rami Abou, additional, Küry, Sébastien, additional, Proietti, Jacopo, additional, McSweeney, Niamh, additional, Brokamp, Elly, additional, Andrews, Peter Ian, additional, Gouray Garcia, Marie, additional, Chebib, Mary, additional, Møller, Rikke S., additional, Ahring, Philip K., additional, and Gardella, Elena, additional

Published
2023
Full Text
View/download PDF

15. Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

Author

Dilena, Robertino, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Giacobbe, Antonella, Ambrosino, Paolo, Mosca, Ilaria, Galli, Maria Albina, Guez, Sophie, Fumagalli, Monica, Miceli, Francesco, Cattaneo, Dario, Darra, Francesca, Gennaro, Elena, Zara, Federico, Striano, Pasquale, Castellotti, Barbara, Gellera, Cinzia, Varesio, Costanza, Veggiotti, Pierangelo, and Taglialatela, Maurizio

Published
2018
Full Text
View/download PDF

16. CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

Author

Specchio, Nicola, primary, Trivisano, Marina, additional, Lenge, Matteo, additional, Ferretti, Alessandro, additional, Mei, Davide, additional, Parrini, Elena, additional, Napolitano, Antonio, additional, Rossi-Espagnet, Camilla, additional, Talenti, Giacomo, additional, Longo, Daniela, additional, Proietti, Jacopo, additional, Ragona, Francesca, additional, Freri, Elena, additional, Solazzi, Roberta, additional, Granata, Tiziana, additional, Darra, Francesca, additional, Bernardina, Bernardo Dalla, additional, Vigevano, Federico, additional, and Guerrini, Renzo, additional

Published
2023
Full Text
View/download PDF

19. Epilepsy in ring chromosome 20 syndrome

Author

Vignoli, Aglaia, Bisulli, Francesca, Darra, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, Dalla Bernardina, Bernardo, and Canevini, Maria Paola

Published
2016
Full Text
View/download PDF

20. Gelastic seizures and “smiling spasms”: A peculiar ictal pattern

Author

Lo Barco, Tommaso, primary, Corona, Laura, additional, Solazzi, Roberta, additional, Fiorini, Elena, additional, Galati, Giulia, additional, Cossu, Alberto, additional, Proietti, Jacopo, additional, Francione, Stefano, additional, Dalla Bernardina, Bernardo, additional, Darra, Francesca, additional, and Cantalupo, Gaetano, additional

Published
2023
Full Text
View/download PDF

21. A registry for Dravet syndrome: The Italian experience

Author

Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, Battaglia, Domenica (ORCID:0000-0003-0491-4021), Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, and Battaglia, Domenica (ORCID:0000-0003-0491-4021)

Abstract

ObjectivesWe describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. MethodsStandardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. ResultsAt present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). SignificanceThe Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its

Published
2023

23. Clinical spectrum of STX1B-related epileptic disorders

Author

Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, and Schubert, Julian

Published
2019
Full Text
View/download PDF

26. Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs

Author

Perini, Samuel, Filosi, Michele, Italian Autism Network, Giovanni, Allibrio, Ilaria, Basadonne, Arianna, Benvenuto, Serafino, Buono, Carmela, Bravaccio, Carlo, Casonato, Elisa, Ceppi, Paolo, Curatolo, DALLA BERNARDINA, Bernardo, Lucio Da Ros, Darra, Francesca, Anna, Eusebi, Alessandra, Gabellone, Andrea De Giacomo, Grazia, Distefano, Enrico, Domenici, Federica, Donno, Maurizio, Elia, Elisa, Fazzi, Michela, Gatta, Stefania, Giusto, Serenella, Grittani, Evamaria, Lanzarini, Malerba, Giovanni, Elisa, Mani, Barbara, Manzi, Lucia, Margari, Lucia, Marzulli, Gabriele, Masi, Paola, Mattei, Luigi, Mazzone, Massimo, Molteni, Pierandrea, Muglia, Sebastiano, Musumeci, Antonio, Narzisi, Antonio, Pascotto, Cinzia, Pari, Antonia, Parmeggiani, Maria Giuseppina Petruzzelli, Alessia, Raffagnato, Emiliangelo, Ratti, Maria Paola Rossaro, Maria Pia Riccio, Paolo, Rizzini, Renato, Scifo, Martina, Siracusano, Raffaella, Tancredi, Alessandra, Tiberti, Trabetti, Elisabetta, Annalisa, Traverso, Paola, Venuti, Zoccante, Leonardo, Alessandro, Zuddas, and Domenici, Enrico

Subjects
autism, biomarker, methylation, gene expression, gene expression, autism, biomarker, methylation
Published
2023

27. Adaptive behaviour in adolescents and adults with Dravet syndrome

Author

Lo Barco, Tommaso, primary, Offredi, Francesca, additional, Castino, Eva, additional, Proietti, Jacopo, additional, Cossu, Alberto, additional, Fiorini, Elena, additional, Fontana, Elena, additional, Cantalupo, Gaetano, additional, Dalla Bernardina, Bernardo, additional, and Darra, Francesca, additional

Published
2022
Full Text
View/download PDF

28. EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome

Author

Masnada, Silvia, primary, Alfei, Enrico, additional, Formica, Manuela, additional, Previtali, Roberto, additional, Accorsi, Patrizia, additional, Arrigoni, Filippo, additional, Bonanni, Paolo, additional, Borgatti, Renato, additional, Darra, Francesca, additional, Fusco, Carlo, additional, De Giorgis, Valentina, additional, Giordano, Lucio, additional, La Briola, Francesca, additional, Orcesi, Simona, additional, Osanni, Elisa, additional, Parazzini, Cecilia, additional, Pinelli, Lorenzo, additional, Rebessi, Erika, additional, Romaniello, Romina, additional, Romeo, Antonino, additional, Spagnoli, Carlotta, additional, Uebler, Christian, additional, Varesio, Costanza, additional, Viri, Maurizio, additional, Zucca, Claudio, additional, Pichiecchio, Anna, additional, and Veggiotti, Pierangelo, additional

Published
2022
Full Text
View/download PDF

29. Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients

Author

Verrotti, Alberto, Cusmai, Raffaella, Darra, Francesca, Martelli, Paola, Accorsi, Patrizia, Bergamo, Silvia, Bevivino, Elsa, Coppola, Giangennaro, Freri, Elena, Grosso, Salvatore, Matricardi, Sara, Parisi, Pasquale, Sartori, Stefano, Spalice, Alberto, Specchio, Nicola, Carelli, Alessia, Zini, Daniela, Bernardina, Bernardo Dalla, and Giordano, Lucio

Published
2014
Full Text
View/download PDF

30. The phenotype of SCN8A developmental and epileptic encephalopathy

Author

Gardella, Elena, Marini, Carla, Trivisano, Marina, Fitzgerald, Mark P., Alber, Michael, Howell, Katherine B., Darra, Francesca, Siliquini, Sabrina, Bölsterli, Bigna K., Masnada, Silva, Pichiecchio, Anna, Johannesen, Katrine M., Jepsen, Birgit, Fontana, Elena, Anibaldi, Gaia, Russo, Silvia, Cogliati, Francesca, Montomoli, Martino, Specchio, Nicola, Rubboli, Guido, Veggiotti, Pierangelo, Beniczky, Sandor, Wolff, Markus, Helbig, Ingo, Vigevano, Federico, Scheffer, Ingrid E., Guerrini, Renzo, and Møller, Rikke S.

Published
2018
Full Text
View/download PDF

32. Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.

Author

De Giorgis, Valentina, Tagliabue, Anna, Bisulli, Francesca, Brambilla, Ilaria, Camerini, Alessandra, Cusmai, Raffaella, Darra, Francesca, Dianin, Alice, Domenica, Elia, Lodi, Monica Anna Maria, Matricardi, Sara, Messana, Tullio, Operto, Francesca, Ragona, Francesca, Russo, Emilio, Varesio, Costanza, Volpi, Lilia, Zanaboni, Martina Paola, Pasca, Ludovica, and Veggiotti, Pierangelo

Subjects
GROUP psychotherapy, EPILEPSY, PATIENT selection, PHARMACOLOGISTS, DIETITIANS
Abstract

A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countries. The Dietary Therapy Study Group of the Italian League against Epilepsy proposes practical recommendations to improve shared knowledge and facilitate the application of ketogenic dietary therapies, optimizing its efficacy and tolerability. The experts involved (11 child neuropsychiatrists, two adult neurologists, one psychologist, one pharmacologist, one pediatric endocrinologist, one representative of patients' associations, and three dietitians and clinical nutritionists) responded to a survey on current clinical practice issues and were asked to discuss controversial topics related to supplementation, long-term maintenance, transition, and a multidisciplinary approach to ketogenic dietary therapies. Practical indications for patient selection, diet initiation, management, side effects prevention, and follow-up are provided. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

33. Adaptive behaviour in adolescents and adults with Dravet syndrome.

Author

Lo Barco, Tommaso, Offredi, Francesca, Castino, Eva, Proietti, Jacopo, Cossu, Alberto, Fiorini, Elena, Fontana, Elena, Cantalupo, Gaetano, Dalla Bernardina, Bernardo, and Darra, Francesca

Subjects
EPILEPSY, MYOCLONUS, TEENAGERS, ADULTS, TALLIES, SYNDROMES
Abstract

Aim: To explore the feasibility of using an adaptive behaviour profile (ABP) assessment generated from a well‐known measure—the Vineland Adaptive Behavior Scales, Second Edition (VABS‐II)—as an instrument for outcome measures in adolescents and adults with Dravet syndrome. Method: We administered the VABS‐II to 35 adolescents and adults with Dravet syndrome (15 males; mean age 24 years, SD 8 years, range: 12–46 years) and collected epilepsy history and neurological features at the time of assessment. We conducted a cross‐sectional analysis of VABS‐II raw scores and performed cluster analysis to identify different subgroups. We then explored possible relationships between clinical and epilepsy features, ABPs, and age. Results: Most participants obtained the minimum standard scores in the various VABS‐II subdomains, while the raw score analysis outlined interindividual and intraindividual differences among skills. We found two subpopulations: one with a 'lower' ABP and one with a 'higher' ABP, corresponding respectively to individuals in whom myoclonic seizures or generalized spike‐and‐wave activity were present ('complete phenotype') or absent ('incomplete phenotype') on electroencephalography. Interpretation: This study further delineates the natural history of Dravet syndrome. The assessment of an ABP through the VABS‐II raw score analysis provides a means by which to illustrate profiles of adaptive behaviour in adolescents and adults with Dravet syndrome but shows limitations related to poor sensitivity in measuring fine clinical details. There is a need for new and more specific tools to monitor patients with developmental and epileptic encephalopathies. What this paper adds: Most adults with Dravet syndrome obtained the minimum standard scores in the Vineland Adaptive Behavior Scales, Second Edition (VABS‐II) subdomains.The VABS‐II raw score analysis showed interindividual and intraindividual variability.Individuals with myoclonic seizures and/or generalized spike‐and‐wave activity on electroencephalography showed a worse adaptive behaviour profile. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

34. An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program

Author

Guerrini, Renzo, primary, Specchio, Nicola, additional, Aledo‐Serrano, Ángel, additional, Pringsheim, Milka, additional, Darra, Francesca, additional, Mayer, Thomas, additional, Gil‐Nagel, Antonio, additional, Polster, Tilman, additional, Zuberi, Sameer M., additional, Lothe, Amélie, additional, Gammaitoni, Arnold, additional, and Strzelczyk, Adam, additional

Published
2022
Full Text
View/download PDF

35. KETASER01 protocol: What went right and what went wrong

Author

Rosati, Anna, primary, L’Erario, Manuela, additional, Bianchi, Roberto, additional, Olivotto, Sara, additional, Battaglia, Domenica Immacolata, additional, Darra, Francesca, additional, Biban, Paolo, additional, Biggeri, Annibale, additional, Catelan, Dolores, additional, Danieli, Giacomo, additional, Mondardini, Maria Cristina, additional, Cordelli, Duccio Maria, additional, Amigoni, Angela, additional, Cesaroni, Elisabetta, additional, Conio, Alessandra, additional, Costa, Paola, additional, Lombardini, Martina, additional, Meleleo, Rosanna, additional, Pugi, Alessandra, additional, Tornaboni, Elena Eve, additional, Santarone, Marta Elena, additional, Vittorini, Roberta, additional, Sartori, Stefano, additional, Marini, Carla, additional, Vigevano, Federico, additional, Mastrangelo, Massimo, additional, Pulitanò, Silvia Maria, additional, Izzo, Francesca, additional, and Fusco, Lucia, additional

Published
2022
Full Text
View/download PDF

36. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], BMBF, Treat-ION, 01GM1907 [sponsor], Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P. Y., Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], BMBF, Treat-ION, 01GM1907 [sponsor], Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P. Y., Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S.

Abstract

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n = 15, normal cognition, treatable seizures), 2) intermediate epilepsy (n = 33, mild ID, partially pharmaco-responsive), 3) developmental and epileptic encephalopathy (DEE, n = 177, severe ID, majority pharmaco-resistant), 4) generalized epilepsy (n = 20, mild to moderate ID, frequently with absence seizures), 5) unclassifiable epilepsy (n = 127), and 6) neurodevelopmental disorder without epilepsy (n = 20, mild to moderate ID). Groups 1–3 presented with focal or multifocal seizures (median age of onset: four months) and focal epileptiform discharges, whereas the onset of seizures in group 4 was later (median: 42 months) with generalized epileptiform discharges. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin-insensitive human NaV1.6 channels and whole-cell patch-clamping. Two variants causing DEE showed a strong gain-of-function (GOF, hyperpolarising shift of steady-state activation, strongly increased neuronal firing rate), and one variant causing BFIE or intermediate epilepsy showed a mild GOF (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (LOF, reduced current amplitudes, depolarising shift of steady-state activation, reduced neuronal firing). Including previous studies, functional effects were known for 170 individuals. All 136 individuals carrying a functionally tested GOF variant had either focal (97, groups 1–3), or unclassifiable epilepsy (39), whereas 34 with a LOF variant had either generalized (14), no

Published
2022

37. KETASER01 protocol: What went right and what went wrong

Author

Rosati, Anna, L'Erario, Manuela, Bianchi, Roberto, Olivotto, Sara, Battaglia, Domenica Immacolata, Darra, Francesca, Biban, Paolo, Biggeri, Annibale, Catelan, Dolore, Danieli, Giacomo, Mondardini, Maria Cristina, Cordelli, Duccio Maria, Amigoni, Angela, Cesaroni, Elisabetta, Conio, Alessandra, Costa, Paola, Lombardini, Martina, Meleleo, Rosanna, Pugi, Alessandra, Tornaboni, Elena Eve, Santarone, Marta Elena, Vittorini, Roberta, Sartori, Stefano, Marini, Carla, Vigevano, Federico, Mastrangelo, Massimo, Pulitanò, Silvia Maria, Izzo, Francesca, Fusco, Lucia, Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Rosati, Anna, L'Erario, Manuela, Bianchi, Roberto, Olivotto, Sara, Battaglia, Domenica Immacolata, Darra, Francesca, Biban, Paolo, Biggeri, Annibale, Catelan, Dolore, Danieli, Giacomo, Mondardini, Maria Cristina, Cordelli, Duccio Maria, Amigoni, Angela, Cesaroni, Elisabetta, Conio, Alessandra, Costa, Paola, Lombardini, Martina, Meleleo, Rosanna, Pugi, Alessandra, Tornaboni, Elena Eve, Santarone, Marta Elena, Vittorini, Roberta, Sartori, Stefano, Marini, Carla, Vigevano, Federico, Mastrangelo, Massimo, Pulitanò, Silvia Maria, Izzo, Francesca, Fusco, Lucia, and Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)

Abstract

Objective To discuss the results of the KETASER01 trial and the reasons for its failure, particularly in view of future studies. Methods KETASER01 is a multicenter, randomized, controlled, open-label, sequentially designed, non-profit Italian study that aimed to assess the efficacy of ketamine compared with conventional anesthetics in the treatment of refractory convulsive status epilepticus (RCSE) in children. Results During the 5-year recruitment phase, a total of 76 RCSEs treated with third-line therapy were observed in five of the 10 participating Centers; only 10 individuals (five for each study arm; five females, mean age 6.5 +/- 6.3 years) were enrolled in the KETASER01 study. Two of the five patients (40%) in the experimental arm were successfully treated with ketamine and two of the five (40%) children in the control arm, where successfully treated with thiopental. In the remaining six (60%) enrolled patients, RCSE was not controlled by the randomized anesthetic(s). Significance The KETASER01 study was prematurely halted due to low eligibility of patients and no successful recruitment. No conclusions can be drawn regarding the objectives of the study. Here, we discuss the KETASER01 results and critically analyze the reasons for its failure in view of future trials.

Published
2022

38. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Author

Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y.Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M.H., van der Zwaag, Bert, Harder, Aster V.E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B.S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y.Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M.H., van der Zwaag, Bert, Harder, Aster V.E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B.S., Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S.

Abstract

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); Group 2, intermediate epilepsy (n = 33, mild intellectual disability, partially pharmaco-responsive); Group 3, developmental and epileptic encephalopathy (n = 177, severe intellectual disability, majority pharmaco-resistant); Group 4, generalized epilepsy (n = 20, mild to moderate intellectual disability, frequently with absence seizures); Group 5, unclassifiable epilepsy (n = 127); and Group 6, neurodevelopmental disorder without epilepsy (n = 20, mild to moderate intellectual disability). Those in Groups 1-3 presented with focal or multifocal seizures (median age of onset: 4 months) and focal epileptiform discharges, whereas the onset of seizures in patients with generalized epilepsy was later (median: 42 months) with generalized epileptiform discharges. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin-insensitive human Nav1.6 channels and whole-cell patch-clamping. Two variants causing developmental and epileptic encephalopathy showed a strong gain-of-function (hyperpolarizing shift of steady-state activation, strongly increased neuronal firing rate) and one variant causing benign familial infantile epilepsy or intermediate epilepsy showed a mild gain-of-function (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (reduced current amplitudes, depolarizing shift of steady-state activation, reduced neuronal firing). Functional effects were known for 170 individuals. All 136 i

Published
2022

39. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S

Published
2022

41. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Knight, Elia M Pestana, primary, Amin, Sam, additional, Bahi-Buisson, Nadia, additional, Benke, Tim A, additional, Cross, J Helen, additional, Demarest, Scott T, additional, Olson, Heather E, additional, Specchio, Nicola, additional, Fleming, Thomas R, additional, Aimetti, Alex A, additional, Gasior, Maciej, additional, Devinsky, Orrin, additional, Belousova, Elena, additional, Belyaev, Oleg, additional, Ben-Zeev, Bruria, additional, Brunklaus, Andreas, additional, Ciliberto, Michael A., additional, Darra, Francesca, additional, Davis, Ronald, additional, De Giorgis, Valentina, additional, Doronina, Olga, additional, Fahey, Michael, additional, Guerrini, Renzo, additional, Heydemann, Peter, additional, Khaletskaya, Olga, additional, Lisewski, Pawel, additional, Marsh, Eric D., additional, Moosa, Ahsan N., additional, Perry, Scott, additional, Philip, Sunny, additional, Rajaraman, Rajsekar R., additional, Renfroe, Ben, additional, Saneto, Russell P., additional, Scheffer, Ingrid E., additional, Sogawa, Yoshimi, additional, Suter, Bernhardt, additional, Sweney, Matthew T., additional, Tarquinio, Daniel, additional, Veggiotti, Pierangelo, additional, Wallace, Geoff, additional, Weisenberg, Judy, additional, Wilfong, Angus, additional, Wirrell, Elaine C., additional, Zafar, Muhammad, additional, and Zolnowska, Marta, additional

Published
2022
Full Text
View/download PDF

43. 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

Author

Costa, Anna-Maria, primary, Lo Barco, Tommaso, additional, Spezia, Elisabetta, additional, Conti, Valerio, additional, Roli, Laura, additional, Marini, Lorenza, additional, Minghetti, Sara, additional, Caramaschi, Elisa, additional, Pietrangelo, Laura, additional, Pecoraro, Luca, additional, D’Achille, Fabio, additional, Accorsi, Paola, additional, Trenti, Tommaso, additional, Melani, Federico, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Darra, Francesca, additional, Bergonzini, Patrizia, additional, and Biagini, Giuseppe, additional

Published
2022
Full Text
View/download PDF

45. Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Author

Righini Andrea, Scarabello Marco, Silvia Masnada, Fusco Carlo, Accorsi Patrizia, Orcesi Simona, Spagnoli Carlotta, Veggiotti Pierangelo, Izzo Giana, Fontanillas R L Miguel, Darra Francesca, Pinelli Lorenzo, Severino Mariasavina, Capra Valeria, Rebessi Erika, Giordano Lucio, Doneda Chiara, Cavallin Mara, Romeo Antonino, Formica Manuela, Pichiecchio Anna, De Giorgis Valentina, Accogli Andrea, Bahi-Buisson Nadia, Parazzini Cecilia, Dalla Bernardina Bernardo, and Fazzi Elisa

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Prenatal diagnosis, 030105 genetics & heredity, MRI features, Corpus callosum, Aicardi syndrome, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Retrospective Studies, Neuroradiology, Coloboma, medicine.diagnostic_test, business.industry, Corpus Callosum Agenesis, Infant, Newborn, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Malformations of Cortical Development, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Radiology, Differential diagnosis, business, 030217 neurology & neurosurgery
Abstract

Objective This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis. Methods The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis–dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. For this purpose, Chi-square statistic and binary logistic regression analysis were performed. Results In all AIC cases, iuMRI was able to detect CC agenesis–dysgenesis and cortical development anomalies. Postnatal MRI revealed some additional findings mainly including further cystic lesions and in two cases small coloboma. A statistically significant difference between AIC and AIC mimicker were found regarding sex, nodular heterotopias, posterior fossa abnormalities, coloboma, and cortical gyration abnormalities. The most predictive variables in the logistic regression model were cortical gyration abnormalities, coloboma, and sex. Conclusion The iuMRI findings may suggest prenatal diagnosis of AIC syndrome with significant impact on parental counseling. Among possible differential diagnoses, tubulinopathies emerged.

Published
2020

47. Epilepsy features in ARID1B-related Coffin-Siris syndrome

Author

Proietti, Jacopo, additional, Amadori, Elisabetta, additional, Striano, Pasquale, additional, Ricci, Emilia, additional, Cordelli, Duccio Maria, additional, Bana, Cristina, additional, Dilena, Robertino, additional, Gardella, Elena, additional, Klint Nielsen, Jens Erik, additional, Pisani, Francesco, additional, Lo Barco, Tommaso, additional, Fiorini, Elena, additional, Fontana, Elena, additional, Darra, Francesca, additional, Dalla Bernardina, Bernardo, additional, and Cantalupo, Gaetano, additional

Published
2021
Full Text
View/download PDF

48. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Author

Johannesen, Katrine Marie, Liu, Yuanyuan, Gjerulfsen, Catherine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina Duhring, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils, Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell, Judith, Lund, Caroline, Klein, Karl Martin, Au, Py Billie, Rho, Jong, Ho, Alice, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoi-Hansen, Christina, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastien, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette, Gronborg, Sabine, Scherer, Stephen, Howe, Jennifer, Fazeli, Walid, Howell, Katherine, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caumes, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Koch-Hogrebe, Margarete, Perry, Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann, Mueller-Schlueter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddarth, Tan, Wen-Hann, Olson, Heather, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark, Goldberg, Ethan M., Roser, Timo, Borggrafe, Ingo, Brunger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike, Benda, Jan, Gardella, Elena, Lerche, Holger, and Moeller, Rikke Steensbjerre

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results