Search

Your search keyword '"Ragona, Francesca"' showing total 315 results
Start Over Author "Ragona, Francesca"
315 results on '"Ragona, Francesca"'

2. Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations

Author

Tsai, Meng-Han, Ke, Hao-Chen, Lin, Wan-Cian, Nian, Fang-Shin, Huang, Chia-Wei, Cheng, Haw-Yuan, Hsu, Chi-Sin, Granata, Tiziana, Chang, Chien-Hui, Castellotti, Barbara, Lin, Shin-Yi, Doniselli, Fabio M., Lu, Cheng-Ju, Franceschetti, Silvana, Ragona, Francesca, Hou, Pei-Shan, Canafoglia, Laura, Tung, Chien-Yi, Lee, Mei-Hsuan, Wang, Won-Jing, and Tsai, Jin-Wu

Published
2024
Full Text
View/download PDF

3. GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Author

Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, and Marini, Carla

Published
2023
Full Text
View/download PDF

4. The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bergamoni, Stefania, Bova, Stefania Maria, Celario, Massimiliano, Freri, Elena, Grumi, Serena, Filippini, Melissa, Leonardi, Valeria, Micheletti, Serena, Operto, Francesca Felicita, Papa, Amanda, Pastorino, Grazia Maria Giovanna, Peruzzi, Cinzia, Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, and De Giorgis, Valentina

Published
2024
Full Text
View/download PDF

5. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Aguglia, Umberto, Bagnasco, Irene, Bartolini, Emanuele, Battaglia, Domenica, Beccaria, Francesca, Belcastro, Vincenzo, Bernardo, Pia, Bonanni, Paolo, Boniver, Clementina, Bonuccelli, Alice, Briatore, Eleonora, Brigo, Francesco, Cesaroni, Elisabetta, Coa, Roberta, Costa, Cinzia, D'Aniello, Alfredo, De Giorgis, Valentina, Gennaro, Giancarlo Di, Ferrari, Anna Rita, Marchese, Francesca, Matricardi, Sara, Messana, Tullio, Morano, Alessandra, Operto, Francesca Felicia, Orsini, Alessandro, Parmeggiani, Lucio, Peruzzi, Cinzia, Pruna, Dario, Puligheddu, Monica, Pulitano, Patrizia, Ragona, Francesca, Romigi, Andrea, Rosati, Anna, Rosati, Eleonora, Russo, Angelo, Sartori, Stefano, Spagnoli, Carlotta, Spanò, Maria, Trabacca, Antonio, Troisi, Serena, Viri, Maurizio, Zucca, Claudio, Riva, Antonella, Coppola, Antonietta, Bonaventura, Carlo Di, Elia, Maurizio, Ferlazzo, Edoardo, Gobbi, Giuseppe, Marini, Carla, Meletti, Stefano, Romeo, Antonino, Santoro, Katia, Verrotti, Alberto, Capovilla, Giuseppe, and Striano, Pasquale

Published
2022
Full Text
View/download PDF

6. Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Author

Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Messina, Giuliana, Magri, Stefania, Previtali, Roberto, Solazzi, Roberta, Franceschetti, Silvana, Taroni, Franco, Canafoglia, Laura, Gellera, Cinzia, Granata, Tiziana, and DiFrancesco, Jacopo C.

Subjects
PARTIAL epilepsy, PEOPLE with epilepsy, GENETIC testing, THERAPEUTICS, INDIVIDUALIZED medicine
Abstract

Objective: The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatments. Methods: In this retrospective observational study, we consecutively recruited patients with pediatric‐onset epilepsy observed at a tertiary neurological center over a time span of 7 years, collecting clinical and laboratory findings. Following in‐depth diagnostic process to exclude possible structural and metabolic causes of the disease, patients with a suspected genetically determined etiology underwent next‐generation sequencing (NGS) screening with panels for the analysis of target genes causative of epilepsy. Results: We detected likely pathogenic or pathogenic variants (classes IV and V) in 24% of the 562 patients who underwent genetic investigations. By the evaluation of patients' data, we observed that some features (onset of epilepsy before one year old, presence of neurological deficits, psychomotor delay/cognitive disability, and malformative aspects at brain MRI) were significantly associated with class IV or V variants. Moreover, statistical analysis showed that the diagnostic yield resulted higher for patients affected by Progressive Myoclonic Epilepsy (PME) and with early onset developmental and epileptic encephalopathies (DEE), compared with focal epilepsies, genetic generalized epilepsies, DEE with onset at/after 1 y.o., and unclassified epileptic syndromes. According to the results of the genetic screening, up to 33% of patients carrying class IV or V variants resulted potentially eligible for precision medicine treatments. Significance: The large‐scale application of NGS multigene panels of analysis is a useful tool for the molecular diagnosis of patients with pediatric‐onset epilepsies, allowing the identification of those who could benefit from a personalized therapeutic approach. Plain Language Summary: The analysis of patients with pediatric‐onset epilepsy using advanced technologies for the screening of all the implicated genes allows the identification of the cause of diseases in an ever‐increasing number of cases. Understanding the pathogenic mechanisms could, in some cases, guide the selection and optimization of appropriate treatment approaches for patients. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

8. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

Author

Nosadini, Margherita, Eyre, Michael, Giacomini, Thea, Valeriani, Massimiliano, Della Corte, Marida, Praticò, Andrea D., Annovazzi, Pietro, Cordani, Ramona, Cordelli, Duccio Maria, Crichiutti, Giovanni, Di Rosa, Gabriella, Dolcemascolo, Valentina, Fetta, Anna, Freri, Elena, Gallo, Paolo, Gastaldi, Matteo, Granata, Tiziana, Grazian, Luisa, Iorio, Raffaele, Lombardini, Martina, Margoni, Monica, Mariotto, Sara, Matricardi, Sara, Melani, Federico, Nardocci, Nardo, Papetti, Laura, Passarini, Alice, Pisani, Francesco, Poʼ, Chiara, Puthenparampil, Marco, Ragona, Francesca, Savasta, Salvatore, Siliquini, Sabrina, Toldo, Irene, Tozzo, Alessandra, Turco, Emanuela Claudia, Varone, Antonio, Vogrig, Alberto, Zuliani, Luigi, Bugin, Samuela, Rossato, Sara, Orsini, Alessandro, Cantalupo, Gaetano, Mancardi, Maria Margherita, Ferilli, Michela Ada Noris, Foiadelli, Thomas, and Sartori, Stefano

Published
2023
Full Text
View/download PDF

9. 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

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

11. Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids

Author

Pizzella, Amelia, primary, Penna, Eduardo, additional, Abate, Natalia, additional, Frenna, Elisa, additional, Canafoglia, Laura, additional, Ragona, Francesca, additional, Russo, Rosita, additional, Chambery, Angela, additional, Perrone-Capano, Carla, additional, Cappello, Silvia, additional, Crispino, Marianna, additional, and Di Giaimo, Rossella, additional

Published
2023
Full Text
View/download PDF

13. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

Author

DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D’Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, and Gellera, Cinzia

Published
2019
Full Text
View/download PDF

14. Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.

Author

Mosca, Ilaria, Freri, Elena, Ambrosino, Paolo, Belperio, Giorgio, Granata, Tiziana, Canafoglia, Laura, Ragona, Francesca, Solazzi, Roberta, Filareto, Ilaria, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, and Taglialatela, Maurizio

Subjects
PARTIAL epilepsy, FLUOXETINE, SEIZURES (Medicine), BEHAVIOR disorders, ACTIVATION energy, DROWSINESS
Abstract

Variants in KCNT1 are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related hypermotor epilepsy, and focal epilepsy. Here, we describe a girl affected by drug-resistant focal seizures, developmental delay and behavior disorders, caused by a novel, de novo heterozygous missense KCNT1 variant (c.2809A > G, p.S937G). Functional characterization in transiently transfected Chinese Hamster Ovary (CHO) cells revealed a strong gain-of-function effect determined by the KCNT1 p.S937G variant compared to wild-type, consisting in an increased maximal current density and a hyperpolarizing shift in current activation threshold. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild-type and mutant KCNT1 channels. Treatment of the proband with fluoxetine led to a prolonged electroclinical amelioration, with disappearance of seizures and better EEG background organization, together with an improvement in behavior and mood. Altogether, these results suggest that, based on the proband's genetic and functional characteristics, the antidepressant drug fluoxetine may be repurposed for the treatment of focal epilepsy caused by gain-of-function variants in KCNT1. Further studies are needed to verify whether this approach could be also applied to other phenotypes of the KCNT1-related epilepsies spectrum. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

15. A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet

Author

DiFrancesco, Jacopo C., primary, Ragona, Francesca, additional, Murano, Carmen, additional, Frosio, Anthony, additional, Melgari, Dario, additional, Binda, Anna, additional, Calamaio, Serena, additional, Prevostini, Rachele, additional, Mauri, Mario, additional, Canafoglia, Laura, additional, Castellotti, Barbara, additional, Messina, Giuliana, additional, Gellera, Cinzia, additional, Previtali, Roberto, additional, Veggiotti, Pierangelo, additional, Milanesi, Raffaella, additional, Barbuti, Andrea, additional, Solazzi, Roberta, additional, Freri, Elena, additional, Granata, Tiziana, additional, and Rivolta, Ilaria, additional

Published
2023
Full Text
View/download PDF

18. 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

21. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Author

Balestrini, Simona, Mikati, Mohamad A., Álvarez-García-Rovés, Reyes, Carboni, Michael, Hunanyan, Arsen S., Kherallah, Bassil, McLean, Melissa, Prange, Lyndsey, De Grandis, Elisa, Gagliardi, Alessandra, Pisciotta, Livia, Stagnaro, Michela, Veneselli, Edvige, Campistol, Jaume, Fons, Carmen, Pias-Peleteiro, Leticia, Brashear, Allison, Miller, Charlotte, Samões, Raquel, Brankovic, Vesna, Padiath, Quasar S., Potic, Ana, Pilch, Jacek, Vezyroglou, Aikaterini, Bye, Ann M.E., Davis, Andrew M., Ryan, Monique M., Semsarian, Christopher, Hollingsworth, Georgina, Scheffer, Ingrid E., Granata, Tiziana, Nardocci, Nardo, Ragona, Francesca, Arzimanoglou, Alexis, Panagiotakaki, Eleni, Carrilho, Inês, Zucca, Claudio, Novy, Jan, Dzieżyc, Karolina, Parowicz, Marek, Mazurkiewicz-Bełdzińska, Maria, Weckhuysen, Sarah, Pons, Roser, Groppa, Sergiu, Sinden, Daniel S., Pitt, Geoffrey S., Tinker, Andrew, Ashworth, Michael, Michalak, Zuzanna, Thom, Maria, Cross, J. Helen, Vavassori, Rosaria, Kaski, Juan P., and Sisodiya, Sanjay M.

Published
2020
Full Text
View/download PDF

22. Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating

Author

Ambrosino, Paolo, Freri, Elena, Castellotti, Barbara, Soldovieri, Maria Virginia, Mosca, Ilaria, Manocchio, Laura, Gellera, Cinzia, Canafoglia, Laura, Franceschetti, Silvana, Salis, Barbara, Iraci, Nunzio, Miceli, Francesco, Ragona, Francesca, Granata, Tiziana, DiFrancesco, Jacopo C., and Taglialatela, Maurizio

Published
2018
Full Text
View/download PDF

23. Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Author

Matricardi, Sara, primary, Cesaroni, Elisabetta, additional, Bonanni, Paolo, additional, Foschi, Nicoletta, additional, D′Aniello, Alfredo, additional, Di Gennaro, Giancarlo, additional, Striano, Pasquale, additional, Cappanera, Silvia, additional, Siliquini, Sabrina, additional, Freri, Elena, additional, Ragona, Francesca, additional, Granata, Tiziana, additional, Deleo, Francesco, additional, Villani, Flavio, additional, Russo, Angelo, additional, Messana, Tullio, additional, Siri, Laura, additional, Bagnasco, Irene, additional, Vignoli, Aglaia, additional, Operto, Francesca Felicia, additional, Orsini, Alessandro, additional, Bonuccelli, Alice, additional, Papa, Amanda, additional, Peruzzi, Cinzia, additional, Liguori, Claudio, additional, Verrotti, Alberto, additional, Chiarelli, Francesco, additional, Marini, Carla, additional, and Lattanzi, Simona, additional

Published
2023
Full Text
View/download PDF

25. A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: 'Precision medicine' approach with fluoxetine

Author

Ambrosino, P, Ragona, F, Mosca, I, Vannicola, C, Canafoglia, L, Solazzi, R, Rivolta, I, Freri, E, Granata, T, Messina, G, Castellotti, B, Gellera, C, Soldovieri, M, Difrancesco, J, Taglialatela, M, Ambrosino, Paolo, Ragona, Francesca, Mosca, Ilaria, Vannicola, Chiara, Canafoglia, Laura, Solazzi, Roberta, Rivolta, Ilaria, Freri, Elena, Granata, Tiziana, Messina, Giuliana, Castellotti, Barbara, Gellera, Cinzia, Soldovieri, Maria Virginia, DiFrancesco, Jacopo Cosimo, Taglialatela, Maurizio, Ambrosino, P, Ragona, F, Mosca, I, Vannicola, C, Canafoglia, L, Solazzi, R, Rivolta, I, Freri, E, Granata, T, Messina, G, Castellotti, B, Gellera, C, Soldovieri, M, Difrancesco, J, Taglialatela, M, Ambrosino, Paolo, Ragona, Francesca, Mosca, Ilaria, Vannicola, Chiara, Canafoglia, Laura, Solazzi, Roberta, Rivolta, Ilaria, Freri, Elena, Granata, Tiziana, Messina, Giuliana, Castellotti, Barbara, Gellera, Cinzia, Soldovieri, Maria Virginia, DiFrancesco, Jacopo Cosimo, and Taglialatela, Maurizio

Abstract

Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathogenic variants display loss-of-function features. Here, we describe a child affected by DEE with fever-triggered seizures, caused by a novel de novo heterozygous missense KCNC1 variant (c.1273G>A; V425M). Patch-clamp recordings in transiently transfected CHO cells revealed that, compared to wild-type, Kv3.1 V425M currents (1) were larger, with membrane potentials between −40 and +40 mV; (2) displayed a hyperpolarizing shift in activation gating; (3) failed to inactivate; and (4) had slower activation and deactivation kinetics, consistent with a mixed functional pattern with prevalent gain-of-function effects. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild-type and mutant Kv3.1 channels. Treatment of the proband with fluoxetine led to a rapid and prolonged clinical amelioration, with the disappearance of seizures and an improvement in balance, gross motor skills, and oculomotor coordination. These results suggest that drug repurposing based on the specific genetic defect may provide an effective personalized treatment for KCNC1-related DEEs.

Published
2023

26. A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet

Author

Difrancesco, J, Ragona, F, Murano, C, Frosio, A, Melgari, D, Binda, A, Calamaio, S, Prevostini, R, Mauri, M, Canafoglia, L, Castellotti, B, Messina, G, Gellera, C, Previtali, R, Veggiotti, P, Milanesi, R, Barbuti, A, Solazzi, R, Freri, E, Granata, T, Rivolta, I, DiFrancesco, Jacopo C, Ragona, Francesca, Murano, Carmen, Frosio, Anthony, Melgari, Dario, Binda, Anna, Calamaio, Serena, Prevostini, Rachele, Mauri, Mario, Canafoglia, Laura, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, Previtali, Roberto, Veggiotti, Pierangelo, Milanesi, Raffaella, Barbuti, Andrea, Solazzi, Roberta, Freri, Elena, Granata, Tiziana, Rivolta, Ilaria, Difrancesco, J, Ragona, F, Murano, C, Frosio, A, Melgari, D, Binda, A, Calamaio, S, Prevostini, R, Mauri, M, Canafoglia, L, Castellotti, B, Messina, G, Gellera, C, Previtali, R, Veggiotti, P, Milanesi, R, Barbuti, A, Solazzi, R, Freri, E, Granata, T, Rivolta, I, DiFrancesco, Jacopo C, Ragona, Francesca, Murano, Carmen, Frosio, Anthony, Melgari, Dario, Binda, Anna, Calamaio, Serena, Prevostini, Rachele, Mauri, Mario, Canafoglia, Laura, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, Previtali, Roberto, Veggiotti, Pierangelo, Milanesi, Raffaella, Barbuti, Andrea, Solazzi, Roberta, Freri, Elena, Granata, Tiziana, and Rivolta, Ilaria

Abstract

Missense variants of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy to developmental and epileptic encephalopathy (DEE). Although variants of HCN1 are an established cause of DEE, those of HCN2 have been reported in generalized epilepsies. Here we describe the first case of DEE caused by the novel de novo heterozygous missense variant c.1379G>A (p.G460D) of HCN2. Functional characterization in transfected HEK293 cells and neonatal rat cortical neurons revealed that HCN2 p.G460D currents were strongly reduced compared to wild-type, consistent with a dominant negative loss-of-function effect. Immunofluorescence staining showed that mutant channels are retained within the cell and do not reach the membrane. Moreover, mutant HCN2 also affect HCN1 channels, by reducing the Ih current expressed by the HCN1-HCN2 heteromers. Due to the persistence of frequent seizures despite pharmacological polytherapy, the patient was treated with a ketogenic diet, with a significant and long-lasting reduction of episodes. In vitro experiments conducted in a ketogenic environment demonstrated that the clinical improvement observed with this dietary regimen was not mediated by a direct action on HCN2 activity. These results expand the clinical spectrum related to HCN2 channelopathies, further broadening our understanding of the pathogenesis of DEE.

Published
2023

27. 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

28. A novel <scp> KCNC1 </scp> gain‐of‐function variant causing developmental and epileptic encephalopathy: 'precision medicine' approach with fluoxetine

Author

Ambrosino Paolo, Ragona Francesca, Mosca Ilaria, Vannicola Chiara, Canafoglia Laura, Solazzi Roberta, Rivolta Ilaria, Freri Elena, Granata Tiziana, Messina Giuliana, Castellotti Barbara, Gellera Cinzia, Soldovieri Maria Virginia, DiFrancesco Jacopo Cosimo, Taglialatela Maurizio, Ambrosino, P, Ragona, F, Mosca, I, Vannicola, C, Canafoglia, L, Solazzi, R, Rivolta, I, Freri, E, Granata, T, Messina, G, Castellotti, B, Gellera, C, Soldovieri, M, Difrancesco, J, and Taglialatela, M

Subjects
next generation sequencing, drug repurposing, Neurology, KCNC1, precision medicine, fluoxetine, epilepsy, Neurology (clinical)
Abstract

Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathogenic variants display loss-of-function features. Here, we describe a child affected by DEE with fever-triggered seizures, caused by a novel de novo heterozygous missense KCNC1 variant (c.1273G>A; V425M). Patch-clamp recordings in transiently transfected CHO cells revealed that, compared to wild-type, Kv3.1 V425M currents (1) were larger, with membrane potentials between −40 and +40 mV; (2) displayed a hyperpolarizing shift in activation gating; (3) failed to inactivate; and (4) had slower activation and deactivation kinetics, consistent with a mixed functional pattern with prevalent gain-of-function effects. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild-type and mutant Kv3.1 channels. Treatment of the proband with fluoxetine led to a rapid and prolonged clinical amelioration, with the disappearance of seizures and an improvement in balance, gross motor skills, and oculomotor coordination. These results suggest that drug repurposing based on the specific genetic defect may provide an effective personalized treatment for KCNC1-related DEEs.

Published
2023
Full Text
View/download PDF

29. EXTENDED GLASGOW OUTCOME SCALE TO EVALUATE THE FUNCTIONAL IMPAIRMENT OF PATIENTS WITH SUBCORTICAL BAND HETEROTOPIA: A MULTICENTRIC CROSS-SECTIONAL STUDY

Author

Toldo, Irene, primary, Brunello, Francesco, additional, Cavasin, Paola, additional, Nosadini, Margherita, additional, Sartori, Stefano, additional, Frigo, Anna Chiara, additional, Mai, Roberto, additional, Pelliccia, Veronica, additional, Mancardi, Maria Margherita, additional, Striano, Pasquale, additional, Severino, Marisavina, additional, Zara, Federico, additional, Rizzi, Romana, additional, Casellato, Susanna, additional, Di Rosa, Gabriella, additional, Mastrangelo, Mario, additional, Spalice, Alberto, additional, Budetta, Mauro, additional, De Palma, Luca, additional, Guerrini, Renzo, additional, Pruna, Dario, additional, Cordelli, Duccio Maria, additional, Sofia, Vito, additional, Papa, Amanda, additional, Chiesa, Valentina, additional, Ragona, Francesca, additional, Parisi, Pasquale, additional, D'Aniello, Alfredo, additional, Veggiotti, Pierangelo, additional, Dainese, Filippo, additional, Giordano, Lucio, additional, Licchetta, Laura, additional, Tinuper, Paolo, additional, D'Orsi, Giuseppe, additional, Cassina, Matteo, additional, and Manara, Renzo, additional

Published
2023
Full Text
View/download PDF

33. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

Author

Nosadini, Margherita, primary, Eyre, Michael, additional, Giacomini, Thea, additional, Valeriani, Massimiliano, additional, Della Corte, Marida, additional, Praticò, Andrea D., additional, Annovazzi, Pietro, additional, Cordani, Ramona, additional, Cordelli, Duccio Maria, additional, Crichiutti, Giovanni, additional, Di Rosa, Gabriella, additional, Dolcemascolo, Valentina, additional, Fetta, Anna, additional, Freri, Elena, additional, Gallo, Paolo, additional, Gastaldi, Matteo, additional, Granata, Tiziana, additional, Grazian, Luisa, additional, Iorio, Raffaele, additional, Lombardini, Martina, additional, Margoni, Monica, additional, Mariotto, Sara, additional, Matricardi, Sara, additional, Melani, Federico, additional, Nardocci, Nardo, additional, Papetti, Laura, additional, Passarini, Alice, additional, Pisani, Francesco, additional, Po', Chiara, additional, Puthenparampil, Marco, additional, Ragona, Francesca, additional, Savasta, Salvatore, additional, Siliquini, Sabrina, additional, Toldo, Irene, additional, Tozzo, Alessandra, additional, Turco, Emanuela Claudia, additional, Varone, Antonio, additional, Vogrig, Alberto, additional, Zuliani, Luigi, additional, Bugin, Samuela, additional, Rossato, Sara, additional, Orsini, Alessandro, additional, Cantalupo, Gaetano, additional, Mancardi, Maria Margherita, additional, Ferilli, Michela Ada Noris, additional, Foiadelli, Thomas, additional, and Sartori, Stefano, additional

Published
2022
Full Text
View/download PDF

34. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Riva, Antonella, primary, Coppola, Antonietta, additional, Bonaventura, Carlo Di, additional, Elia, Maurizio, additional, Ferlazzo, Edoardo, additional, Gobbi, Giuseppe, additional, Marini, Carla, additional, Meletti, Stefano, additional, Romeo, Antonino, additional, Santoro, Katia, additional, Verrotti, Alberto, additional, Capovilla, Giuseppe, additional, Striano, Pasquale, additional, Aguglia, Umberto, additional, Bagnasco, Irene, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Beccaria, Francesca, additional, Belcastro, Vincenzo, additional, Bernardo, Pia, additional, Bonanni, Paolo, additional, Boniver, Clementina, additional, Bonuccelli, Alice, additional, Briatore, Eleonora, additional, Brigo, Francesco, additional, Cesaroni, Elisabetta, additional, Coa, Roberta, additional, Costa, Cinzia, additional, D'Aniello, Alfredo, additional, De Giorgis, Valentina, additional, Gennaro, Giancarlo Di, additional, Ferrari, Anna Rita, additional, Marchese, Francesca, additional, Matricardi, Sara, additional, Messana, Tullio, additional, Morano, Alessandra, additional, Operto, Francesca Felicia, additional, Orsini, Alessandro, additional, Parmeggiani, Lucio, additional, Peruzzi, Cinzia, additional, Pruna, Dario, additional, Puligheddu, Monica, additional, Pulitano, Patrizia, additional, Ragona, Francesca, additional, Romigi, Andrea, additional, Rosati, Anna, additional, Rosati, Eleonora, additional, Russo, Angelo, additional, Sartori, Stefano, additional, Spagnoli, Carlotta, additional, Spanò, Maria, additional, Trabacca, Antonio, additional, Troisi, Serena, additional, Viri, Maurizio, additional, and Zucca, Claudio, additional

Published
2022
Full Text
View/download PDF

36. 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

37. A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

Author

Ambrosino, Paolo, Ragona, Francesca, Mosca, Ilaria, Vannicola, Chiara, Canafoglia, Laura, Solazzi, Roberta, Rivolta, Ilaria, Freri, Elena, Granata, Tiziana, Messina, Giuliana, Castellotti, Barbara, Gellera, Cinzia, Soldovieri, Maria Virginia, DiFrancesco, Jacopo Cosimo, and Taglialatela, Maurizio

Subjects
GAIN-of-function mutations, EPILEPSY, INDIVIDUALIZED medicine, GROSS motor ability, MEMBRANE potential, FLUOXETINE, BRAIN diseases, MYOCLONUS
Abstract

Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathogenic variants display loss‐of‐function features. Here, we describe a child affected by DEE with fever‐triggered seizures, caused by a novel de novo heterozygous missense KCNC1 variant (c.1273G>A; V425M). Patch‐clamp recordings in transiently transfected CHO cells revealed that, compared to wild‐type, Kv3.1 V425M currents (1) were larger, with membrane potentials between −40 and +40 mV; (2) displayed a hyperpolarizing shift in activation gating; (3) failed to inactivate; and (4) had slower activation and deactivation kinetics, consistent with a mixed functional pattern with prevalent gain‐of‐function effects. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild‐type and mutant Kv3.1 channels. Treatment of the proband with fluoxetine led to a rapid and prolonged clinical amelioration, with the disappearance of seizures and an improvement in balance, gross motor skills, and oculomotor coordination. These results suggest that drug repurposing based on the specific genetic defect may provide an effective personalized treatment for KCNC1‐related DEEs. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

40. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR [sponsor], Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, BrÃ\textonequarternger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Leijla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR [sponsor], Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, BrÃ\textonequarternger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Leijla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, and Weber, Yvonne

Abstract

Background: KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potassium channel subfamily, which is important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. The objective of this study was to analyse the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants.Methods: Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic, and functional analysis. Cases were referred through clinical and research collaborations. Selected de novo variants were examined electrophysiologically in Xenopus laevis oocytes.Results: We identified novel KCNC2 variants in 18 patients with various forms of epilepsy including genetic generalized epilepsy (GGE), developmental and epileptic encephalopathy (DEE) including early-onset absence epilepsy (EOAE), focal epilepsy (FE), and myoclonic-atonic epilepsy (MAE). 10/18 variants were de novo and 8/18 variants were classified as modifying variants. 8 drug responsive cases became seizure-free using valproic acid as monotherapy or in combination including severe DEE cases. Functional analysis of four variants demonstrated gain-of-function in three severely affected DEE cases and loss-of-function in one case with a milder phenotype (GGE) as the underlying pathomechanisms.Conclusion: These findings implicate KCNC2 as a novel causative gene for epilepsy and emphasize the critical role of KV3.2 in the regulation of brain excitability.

Published
2022

41. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Author

Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne, Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, and Weber, Yvonne

Abstract

Background and Objectives KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potassium channel subfamily, which is important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. The objective of this study was to analyze the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants. Methods Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic, and functional analysis. Cases were referred through clinical and research collaborations. Selected de novo variants were examined electrophysiologically in Xenopus laevis oocytes. Results We identified novel KCNC2 variants in 18 patients with various forms of epilepsy, including genetic generalized epilepsy (GGE), developmental and epileptic encephalopathy (DEE) including early-onset absence epilepsy, focal epilepsy, and myoclonic-atonic epilepsy. Of the 18 variants, 10 were de novo and 8 were classified as modifying variants. Eight drug-responsive patients became seizure-free using valproic acid as monotherapy or in combination, including severe DEE cases. Functional analysis of 4 variants demonstrated gain of function in 3 severely affected DEE cases and loss of function in 1 case with a milder phenotype (GGE) as the underlying pathomechanisms. Discussion These findings implicate KCNC2 as a novel causative gene for epilepsy and emphasize the critical role of K(V)3.2 in the regulation of brain excitability.

Published
2022

42. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Author

Genetica Klinische Genetica, Brain, Child Health, Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brà Nger, Tobias, Hedrich, Ulrike B S, Augustijn, Paul B, Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J, Bruria, Ben Zeev, Doyle, Michael G, Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S, Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Leijla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S, Ragona, Francesca, Granata, Tiziana, Reif, Phillip S, Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A, Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M, Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne, Genetica Klinische Genetica, Brain, Child Health, Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brà Nger, Tobias, Hedrich, Ulrike B S, Augustijn, Paul B, Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J, Bruria, Ben Zeev, Doyle, Michael G, Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S, Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Leijla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S, Ragona, Francesca, Granata, Tiziana, Reif, Phillip S, Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A, Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M, Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, and Weber, Yvonne

Published
2022

44. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Author

Schwarz, Niklas, primary, Seiffert, Simone, additional, Pendziwiat, Manuela, additional, Rademacher, Annika Verena, additional, Brünger, Tobias, additional, Hedrich, Ulrike B.S., additional, Augustijn, Paul B., additional, Baier, Hartmut, additional, Bayat, Allan, additional, Bisulli, Francesca, additional, Buono, Russell J., additional, Bruria, Ben Zeev, additional, Doyle, Michael G., additional, Guerrini, Renzo, additional, Heimer, Gali, additional, Iacomino, Michele, additional, Kearney, Hugh, additional, Klein, Karl Martin, additional, Kousiappa, Ioanna, additional, Kunz, Wolfram S., additional, Lerche, Holger, additional, Licchetta, Laura, additional, Lohmann, Ebba, additional, Minardi, Raffaella, additional, McDonald, Marie, additional, Montgomery, Sarah, additional, Mulahasanovic, Lejla, additional, Oegema, Renske, additional, Ortal, Barel, additional, Papacostas, Savvas S., additional, Ragona, Francesca, additional, Granata, Tiziana, additional, Reif, Phillip S., additional, Rosenow, Felix, additional, Rothschild, Annick, additional, Scudieri, Paolo, additional, Striano, Pasquale, additional, Tinuper, Paolo, additional, Tanteles, George A., additional, Vetro, Annalisa, additional, Zahnert, Felix, additional, Goldberg, Ethan M., additional, Zara, Federico, additional, Lal, Dennis, additional, May, Patrick, additional, Muhle, Hiltrud, additional, Helbig, Ingo, additional, and Weber, Yvonne, additional

Published
2022
Full Text
View/download PDF

47. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, Joshua E., primary, Povysil, Gundula, additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Allen, Andrew S., additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Cusick, Caroline, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea E., additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Gupta, Namrata, additional, Neale, Benjamin M., additional, Cavalleri, Gianpiero L., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Hakonarson, Hakon, additional, Heinzen, Erin L., additional, Helbig, Ingo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Stewart, Randy, additional, Weckhuysen, Sarah, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, Krause, Roland, additional, May, Patrick, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bennett, Caitlin A., additional, Leu, Costin, additional, Leech, Stephanie L., additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Ali, Quratulain Zulfiqar, additional, Sadoway, Tara R., additional, Krestel, Heinz, additional, Schaller, André, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Christou, Yiolanda, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Neubauer, Bernd A., additional, Zimprich, Friedrich, additional, Feucht, Martha, additional, Reinthaler, Eva M., additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Surges, Rainer, additional, Baumgartner, Tobias, additional, von Wrede, Randi, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lauxmann, Stephan, additional, Boßelmann, Christian, additional, Kegele, Josua, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Wolff, Markus, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Saarela, Anni, additional, Timonen, Oskari, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rheims, Sylvain, additional, Lesca, Gaetan, additional, Ryvlin, Philippe, additional, Maillard, Louis, additional, Valton, Luc, additional, Derambure, Philippe, additional, Bartolomei, Fabrice, additional, Hirsch, Edouard, additional, Michel, Véronique, additional, Chassoux, Francine, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Baker, Mark D., additional, Fonferko-Shadrach, Beata, additional, Lawthom, Charlotte, additional, Anderson, Joseph, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, El-Naggar, Hany, additional, Widdess-Walsh, Peter, additional, Barišić, Nina, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Zara, Federico, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Salpietro, Vincenzo, additional, Scala, Marcello, additional, Mancardi, Maria Margherita, additional, Nobili, Lino, additional, Amadori, Elisabetta, additional, Giacomini, Thea, additional, Bisulli, Francesca, additional, Pippucci, Tommaso, additional, Licchetta, Laura, additional, Minardi, Raffaella, additional, Tinuper, Paolo, additional, Muccioli, Lorenzo, additional, Mostacci, Barbara, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Barba, Carmen, additional, Hirose, Shinichi, additional, Ishii, Atsushi, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Beydoun, Ahmad, additional, Nasreddine, Wassim, additional, Khoueiry Zgheib, Nathalie, additional, Tumiene, Birute, additional, Utkus, Algirdas, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Yis, Uluc, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Tsai, Meng-Han, additional, Ho, Chen-Jui, additional, Lin, Chih-Hsiang, additional, Lin, Kuang-Lin, additional, Chou, I-Jun, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Noebels, Jeffrey L., additional, Goldman, Alicia, additional, Busch, Robyn M., additional, Jehi, Lara, additional, Najm, Imad M., additional, Ferguson, Lisa, additional, Khoury, Jean, additional, Glauser, Tracy A., additional, Clark, Peggy O., additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Greenberg, David A., additional, Ellis, Colin A., additional, Goldberg, Ethan, additional, Helbig, Katherine L., additional, Cosico, Mahgenn, additional, Vaidiswaran, Priya, additional, Fitch, Eryn, additional, Berkovic, Samuel F., additional, Lerche, Holger, additional, Lowenstein, Daniel H., additional, and Goldstein, David B., additional

Published
2021
Full Text
View/download PDF

48. WISC‐IVintellectual profiles in Italian children with self‐limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bova, Stefania Maria, Chiappedi, Matteo Alessio, Filippini, Melissa, Giordano, Lucio, Grumi, Serena, Micheletti, Serena, Operto, Francesca F., Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, Vignoli, Aglaia, and De Giorgis, Valentina

Abstract

This study aimed to describe the intellectual profile based on the Wechsler Intelligence Scale for Children 4th edition (WISC‐IV) in children with self‐limited epilepsy with centrotemporal spikes (SeLECTS), with an attempt to define possible predictive epilepsy‐related variables of cognitive performance. The WISC‐IV was assessed in 161 children with SeLECTS and their cognitive profiles were compared to a matched sample of healthy control children. Children with SeLECTS performed within normal range across all indices, demonstrating particular strength based on the Perceptual Reasoning Index. Compared to healthy control children, we observed a significant difference in performance based on the Full Scale Intelligence Quotient, Verbal Comprehension Index and Processing Speed Index. Regarding epilepsy‐related variables, earlier onset of epilepsy, use of anti‐seizure medications, the presence of neurodevelopmental disorders, a higher frequency of seizures, and a longer treatment duration were associated with an overall lower level of performance. Children with SeLECTS performed within the average range for cognitive assessment based on the WISC‐IV, demonstrating that children had normal levels of global intelligence. However, compared to healthy control children, children with SeLECTS showed a slightly lower level of performance. Reasoning skills represented the relative strengths in children with SeLECTS. Predictors of intellectual performance in patients with SeLECTS include epilepsy‐related variables and neurodevelopmental comorbidities.

Published
2023
Full Text
View/download PDF

50. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Author

Jaffer, Fatima, Avbersek, Andreja, Vavassori, Rosaria, Fons, Carmen, Campistol, Jaume, Stagnaro, Michela, De Grandis, Elisa, Veneselli, Edvige, Rosewich, Hendrik, Gianotta, Melania, Zucca, Claudio, Ragona, Francesca, Granata, Tiziana, Nardocci, Nardo, Mikati, Mohamed, Helseth, Ashley R., Boelman, Cyrus, Minassian, Berge A., Johns, Sophia, Garry, Sarah I., Scheffer, Ingrid E., Gourfinkel-An, Isabelle, Carrilho, Ines, Aylett, Sarah E., Parton, Matthew, Hanna, Michael G., Houlden, Henry, Neville, Brian, Kurian, Manju A., Novy, Jan, Sander, Josemir W., Lambiase, Pier D., Behr, Elijah R., Schyns, Tsveta, Arzimanoglou, Alexis, Cross, J. Helen, Kaski, Juan P., and Sisodiya, Sanjay M.

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results