Leonilda Bilo

@unina.it

Epilepsy Center, Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medecine, University Federico II
University Federico II

Leonilda Bilo


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https://researchid.co/leonilda

RESEARCH INTERESTS

Epilepsy, EEG, Anti Seizure Medications, Neurohormones.
124

Scopus Publications

Scopus Publications

  • Evaluating LLM Style Transfer Through Readability-Based Age Assessments
    Iwsds 2026 16th International Workshop on Spoken Dialogue Systems Technology Proceedings of the Conference, 2026
  • Ultra long-term EEG monitoring for developmental and epileptic encephalopathies: protocol for a prospective study using subscalp EEG
    Leonardo Affronte, Stefania Maffei, Mara Malerba, Giada Giovannini, Paolo Manganotti, Antonietta Coppola, Leonilda Bilo, Anna Elisabetta Vaudano, Marina Trivisano, Nicola Specchio, Stefano Meletti
    Clinical Neurophysiology Practice, 2026
    Objective: Poor documentation of seizures can be a major challenge in epilepsy. Objective seizure counting with mobile devices might improve this challenge and the patient management. We investigate whether ultra long-term subcutaneous EEG improves seizure documentation and disease monitoring in adults and adolescents with developmental and epileptic encephalopathies (DEEs). Methods: Ultra long-term subcutaneous EEG Monitoring In Rare Epilepsies and DEE (EMIRE) is a multi-centre prospective interventional study with an expected duration of 6 months. 33 Adolescents and adult participants will be implanted with 24/7 EEG SubQ and collect 2-channel EEG data up to 6 months. Data will be reviewed by experts on a weekly basis and a summary sent to the treating clinician. Results: (1) safety and tolerability of subcutaneous EEG in this special patient population; (2) seizure detection sensitivity and specificity with respect to patients' seizure-diaries and 'ground truth'; (3) whether and how home monitoring can affect the clinical management of the patients. Conclusions: This project will investigate home and remote patient monitoring systems, offering an accuracy that is unthinkable today. Significance: This trial of home monitoring is intended to be of clinical utility to the patient by allowing objective assessment of therapeutic interventions and their effectiveness.Plain language summary.We present a clinical trial protocol for a prospective cohort study in people with severe epilepsies across Italy. The study aims to assess whether an EEG implant placed under the skin (1) is more accurate than patient-reported seizure diary, (2) is feasible and acceptable to patients and clinicians, (3) affect the clinical management of the patients, (4) reduces the impact of epilepsy.
  • Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2
    Antonietta Coppola, Claudia Cuccurullo, Gianmaria Senerchia, Marica Rubino, Liana Veneziano, Francesco Brancati, Luigi Baratto, Valentina Virginia Iuzzolino, Leonilda Bilo, Pasquale Striano, Raffaele Dubbioso
    Epilepsia Open, 2025
    Familial adult myoclonus epilepsy (FAME) management relies on antiseizure medications (ASMs), which inadequately address myoclonus and cortical tremor. This study evaluates Perampanel (PER), an AMPA‐receptor antagonist, for treating FAME symptoms. Fifteen FAME2 patients participated in an observational prospective study. They received up to 6 mg daily of PER and underwent Unified‐Myoclonus‐Rating‐Scale (UMRS) before and after treatment. Neurophysiological evaluations, including somatosensory evoked potentials (SEPs) and transcranial magnetic stimulation (TMS), assessed PER's impact on cortical glutamatergic excitatory and GABAergic inhibitory circuits. PER treatment significantly reduced UMRS total scores (p = 0.001) and action‐myoclonus subscores (p = 0.002), irrespective of disease duration, age at onset, or testing time (p >0.05). Patients with more severe baseline myoclonus demonstrated significant improvements. Neurophysiological assessments revealed a PER‐induced decrease in sensorimotor hyperexcitability, characterized by diminished N33 amplitudes, attenuated glutamatergic facilitation, and enhanced GABAergic inhibition in the motor cortex. In conclusion, low‐dose PER is well tolerated and effective in alleviating myoclonus in FAME2 patients, supported by its modulatory effects on glutamatergic and GABAergic neuronal circuits.Plain Language Summary: This study investigated the effects of low‐dose perampanel in individuals with Familial Adult Myoclonus Epilepsy2 (FAME2), a hereditary condition characterized by epilepsy and tremors. Perampanel, an antiepileptic drug, blocks AMPA receptors in the brain, reducing excessive neural activity that causes seizures and abnormal movements. The results showed significant symptom improvement, which correlated with changes in brain activity as measured by neurophysiological tests. This study suggests that perampanel helps regulate abnormal brain signals and may help managing FAME2 symptoms.
  • Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
    Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, Antonella Riva, Alessandra D'Amico, Sara Cabet, Gaetan Lesca, Leonilda Bilo, Federico Zara, Catrinel Iliescu, Diana Barca, France Fung, Katherine Helbig, Xilma Ortiz‐Gonzalez, Helenius J. Schelhaas, Marjolein H. Willemsen, Inge van der Linden, Laura Canafoglia, Carolina Courage, Samuele Gommaraschi, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Steffen Syrbe, Elisabeth Schuler, Johannes R. Lemke, Stella Vari, Gitte Roende, Mads Bak, Mahbulul Huq, Zoe Powis, Katrine M. Johannesen, Trine Bjørg Hammer, Rikke S. Møller, Rachel Rabin, John Pappas, Mary L. Zupanc, Neda Zadeh, Julie Cohen, Sakkubai Naidu, Ilona Krey, Russell Saneto, Jenny Thies, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Raffaella Minardi, Allan Bayat, Nathalie Villeneuve, Florence Molinari, Hormos Salimi Dafsari, Birk Moller, Marie Le Roux, Clara Houdayer, Marilena Vecchi, Isabella Mammi, Elena Fiorini, Jacopo Proietti, Sofia Ferri, Gaetano Cantalupo, Domenica Immacolata Battaglia, Maria Luigia Gambardella, Ilaria Contaldo, Claudia Brogna, Marina Trivisano, Angela De Dominicis, Stefania Maria Bova, Elena Gardella, Pasquale Striano, Antonietta Coppola
    Epilepsia, 2024
    ObjectiveDYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1‐related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1‐related epilepsy spectrum, and compare the genotype–phenotype correlations observed in our cohort with the literature.MethodsPatients harboring de novo DYNC1H1 pathogenic variants were recruited through international collaborations. Clinical data were retrospectively collected. Latent class analysis was performed to identify subphenotypes. Multivariable binary logistic regression analysis was applied to investigate the association with DYNC1H1 protein domains.ResultsDYNC1H1‐related epilepsy presented with infantile epileptic spasms syndrome (IESS) in 17 subjects (50%), and in 25% of these individuals the epileptic phenotype evolved into Lennox–Gastaut syndrome (LGS). In 12 patients (35%), focal onset epilepsy was defined. In two patients, the epileptic phenotype consisted of generalized myoclonic epilepsy, with a progressive phenotype in one individual harboring a frameshift variant. In approximately 60% of our cohort, seizures were drug‐resistant. Malformations of cortical development were noticed in 79% of our patients, mostly on the lissencephaly–pachygyria spectrum, particularly with posterior predominance in a half of them. Midline and infratentorial abnormalities were additionally reported in 45% and 27% of subjects. We have identified three main classes of subphenotypes on the DYNC1H1‐related epilepsy spectrum.SignificanceWe propose a classification in which pathogenic de novo DYNC1H1 variants feature drug‐resistant IESS in half of cases with potential evolution to LGS (Class 1), developmental and epileptic encephalopathy other than IESS and LGS (Class 2), or less severe focal or genetic generalized epilepsy including a progressive phenotype (Class 3). We observed an association between stalk domain variants and Class 1 phenotypes. The variants p.Arg309His and p.Arg1962His were common and associated with Class 1 subphenotype in our cohort. These findings may aid genetic counseling of patients with DYNC1H1‐related epilepsy.
  • X-Linked Epilepsies: A Narrative Review
    Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, Antonietta Coppola
    International Journal of Molecular Sciences, 2024
    X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A). It is often difficult to suspect an X-linked mode of transmission in an epilepsy syndrome. Indeed, different models of X-linked inheritance and modifying factors, including epigenetic regulation and X-chromosome inactivation in females, may further complicate genotype–phenotype correlations. The purpose of this work is to provide an extensive and updated narrative review of X-linked epilepsies. This review could support clinicians in the genetic diagnosis and treatment of patients with epilepsy featuring X-linked inheritance.
  • Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
    Antonietta Coppola, S. Krithika, Michele Iacomino, Dheeraj Bobbili, Simona Balestrini, Irene Bagnasco, Leonilda Bilo, Daniela Buti, Susanna Casellato, Claudia Cuccurullo, Edoardo Ferlazzo, Costin Leu, Lucio Giordano, Giuseppe Gobbi, Laura Hernandez‐Hernandez, Nick Lench, Helena Martins, Stefano Meletti, Tullio Messana, Vincenzo Nigro, Michele Pinelli, Tommaso Pippucci, Ravishankara Bellampalli, Barbara Salis, Vito Sofia, Pasquale Striano, Salvatore Striano, Laura Tassi, Aglaia Vignoli, Anna Elisabetta Vaudano, Maurizio Viri, Ingrid E. Scheffer, Patrick May, Federico Zara, Sanjay M. Sisodiya
    Epilepsia, 2024
    ObjectiveEpilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether other genes are also involved, or a single gene is uniquely linked with EEM, or its subtypes, is not yet known. We aimed to dissect the genetic etiology of EEM.MethodsWe studied a cohort of 105 individuals by using whole exome sequencing. Individuals were divided into two groups: EEM− (isolated EEM) and EEM+ (EEM accompanied by intellectual disability [ID] or any other neurodevelopmental/psychiatric disorder).ResultsWe identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CHD2, one in NEXMIF, one in SYNGAP1, and one in TRIM8) were found in the EEM+ subcohort (28.57%). Only one variant (IFIH1) was found in the EEM− subcohort (1.29%); however, because the phenotype of the proband did not fit with published data, additional evidence is needed before considering IFIH1 variants and EEM− an established association. Burden analysis did not identify any single burdened gene or gene set.SignificanceOur results suggest that for EEM, as for many other epilepsies, the identification of a genetic cause is more likely with comorbid ID and/or other neurodevelopmental disorders. Pathogenic variants were mostly found in CHD2, and the association of CHD2 with EEM+ can now be considered a reasonable gene–disease association. We provide further evidence to strengthen the association of EEM+ with NEXMIF and SYNGAP1. Possible new associations between EEM+ and TRIM8, and EEM− and IFIH1, are also reported. Although we provide robust evidence for gene variants associated with EEM+, the core genetic etiology of EEM− remains to be elucidated.
  • Novel biallelic variants expand the phenotype of NAA20-related syndrome
    Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, Mariasavina Severino, Alessandra D'Amico, Kirsten Brønstad, Mohammed AlOwain, Jennifer L. Morrison, Patricia G. Wheeler, Bryn D. Webb, Abdullah Alfalah, Michele Iacomino, Paolo Uva, Antonietta Coppola, Giuseppe Merla, Vincenzo Damiano Salpietro, Federico Zara, Pasquale Striano, Andrea Accogli, Thomas Arnesen, Leonilda Bilo
    Clinical Genetics, 2023
    NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder in five individuals with limited clinical information. We report two sisters harboring compound heterozygous variant (c.100C>T (p.Gln34Ter) and c.11T>C p.(Leu4Pro)) in the NAA20 gene, identified by exome sequencing. In vitro studies showed that the missense variant p.Leu4Pro resulted in a reduction of NAA20 catalytic activity due to weak coupling with the NatB auxiliary subunit. In addition, unpublished data of the previous families were reported, outlining the core phenotype of the NAA20-related disorder mostly characterized by cognitive impairment, microcephaly, ataxia, brain malformations, dysmorphism and variable occurrence of cardiac defect and epilepsy. Remarkably, our two patients featured epilepsy onset in adolescence suggesting this may be a part of syndrome evolution. Functional studies are needed to better understand the complexity of NAA20 variants pathogenesis as well as of other genes linked to N-terminal acetylation.
  • A solved puzzle: Familial adult myoclonus epilepsy is a new expansion repeats disorder
    Antonietta Coppola, Leonilda Bilo, Pasquale Striano
    Epilepsia, 2023
    On the 27th–28th of May 2022, the International Workshop on Familial Adult Myoclonus Epilepsy (FAME) was held in Naples, Italy (Figure 1). The event was endorsed by the International League Against Epilepsy and supported by a European Joint Programme on Rare Disease grant. More than sixty international researchers gathered together to discuss this unusual and interesting epileptic disorder. This supplement reports the clinical and experimental characteristics of this condition described over the past 30 years under different acronyms (BAFME: benign adult familial myoclonic epilepsy; ADCME: autosomal dominant cortical myoclonus and epilepsy; FCMTE: familial cortical myoclonic tremor and epilepsy),1 which were presented and discussed during the workshop. For consistency, we will use the acronym “FAME” throughout the supplement. The prevalence is not established yet, as this condition is often underrecognized, but it is estimated to be <1/35 000.2 Its diffusion and disease history across the world have been reviewed by Berkovic et al.3 This condition is transmitted in an autosomal dominant manner and is characterized by the occurrence of cortical myoclonic tremor, overt myoclonus, and rare bilateral tonic–clonic seizures. FAME is considered a neurodegenerative condition, although it is relatively slow in progression, as discussed by Giraldez et al.4 The diagnosis is based on specific neurophysiological testing, namely jerk-locked back-averaging, somatosensory evoked potentials, long-latency reflex, and motor evoked potentials, among others. A review of the neurophysiological findings has been discussed by Dubbioso et al.5 Imaging data, including functional magnetic resonance imaging, indicates a cortical origin of the cortical myoclonic tremor and decreased cerebellar activation.6 Interestingly, cerebellar changes indicating changes in Purkinje cells emerged from few neuropathology reports, in patients from isolated pedigrees. These data have been reviewed by Van Rootselaar et al.7 The differential diagnosis may be challenging and should consider some forms of genetic generalized epilepsy and progressive myoclonus epilepsies. This topic is discussed by Baykan et al.8 The genetic cause of FAME has long remained elusive, but recently it has been identified for the four main geographical aggregates and consists of an intronic repeat pentameric expansion occurring in different genes and still causing an overlapping phenotype across the world. Although their protein products have different functions, the underlying pathogenic mechanism is likely the same. These aspects are discussed by Corbett et al.9 and Silveira et al.10 FAME treatment is so far symptomatic and often elusive, as discussed by Coppola et al.11 Elucidating the pathogenesis of this condition is essential to provide further insight into therapeutic options aiming at precision medicine that would not be possible otherwise.12 We heartily thank Dr. Mike Sperling, Editor of Epilepsia, for the generous offer to publish this supplement issue, which may serve as a helpful guide for epileptologists as well as for medical students and residents who want to learn more about the pathophysiology, epidemiology, and potential treatment of this intriguing epileptic disorder. This communication was part of the International Workshop on Familial Adult Myoclonic Epilepsy, held in Naples (Italy) on May 27–28, 2022. This networking event has received funding from the European Union's Horizon 2020 research and innovation program under EJP RD COFUND-EJP No. 825 575. Open Access Funding provided by Universita degli Studi di Napoli Federico II within the CRUI-CARE Agreement. None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
  • Current treatment options for familial adult myoclonus epilepsy
    Antonietta Coppola, Raffaele Dubbioso, Claudia Cuccurullo, Laura Licchetta, Mar Carreno, Edouard Hirsch, Leonilda Bilo
    Epilepsia, 2023
    Familial Adult Myoclonus Epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Indeed, clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and anti-myoclonic effect such as valproate (VPA), levetiracetam (LEV), benzodiazepines (BDZs) and perampanel (PER). However, these medications well control seizures while having a limited effect on myoclonus and cortical tremor. In addition, many ASMs including sodium channel blockers and gabapentin are contraindicated in this condition. The ideal therapeutic option would be a precision treatment able to revert the genetic defect underlying it. Nevertheless, this does not seem to be an option available shortly.
  • Effects of three-months folate supplementation on early vascular abnormalities in hyperhomocysteinemic patients with epilepsy
    Mariarosaria De Luca, Antonio Valvano, Pasquale Striano, Giorgio Bosso, Daniela Pirone, Assunta Trinchillo, Leonilda Bilo, Ugo Oliviero
    Seizure, 2022
  • Hydranencephaly in CENPJ-related Seckel syndrome
    Claudia Cuccurullo, Giuseppina Miele, Gianluca Piccolo, Leonilda Bilo, Andrea Accogli, Alessandra D'Amico, Mario Fratta, Sara Guerrisi, Michele Iacomino, Vincenzo Salpietro, Lorenzo Ugga, Pasquale Striano, Antonietta Coppola
    European Journal of Medical Genetics, 2022
  • Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: pathophysiology and diagnostic implications
    Raffaele Dubbioso, Pasquale Striano, Leo Tomasevic, Leonilda Bilo, Marcello Esposito, Fiore Manganelli, Antonietta Coppola
    Brain Communications, 2022
  • Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature
    Serena Troisi, Silvia Maitz, Mariasavina Severino, Alice Spano, Gerarda Cappuccio, Nicola Brunetti-Pierri, Annalaura Torella, Vincenzo Nigro, Tudp, Leonilda Bilo, Antonietta Coppola
    European Journal of Medical Genetics, 2022
  • Status epilepticus in pregnancy: a literature review and a protocol proposal
    Roberta Roberti, Morena Rocca, Luigi Francesco Iannone, Sara Gasparini, Angelo Pascarella, Sabrina Neri, Vittoria Cianci, Leonilda Bilo, Emilio Russo, Paola Quaresima, Umberto Aguglia, Costantino Di Carlo, Edoardo Ferlazzo
    Expert Review of Neurotherapeutics, 2022
  • Predictive factors of Status Epilepticus and its recurrence in patients with adult–onset seizures: A multicenter, long follow–up cohort study
    Sara Gasparini, Edoardo Ferlazzo, Gianluigi Gigli, Giada Pauletto, Annacarmen Nilo, Christian Lettieri, Leonilda Bilo, Angelo Labate, Francesco Fortunato, Claudia Varrasi, Roberto Cantello, Alfredo D'Aniello, Giancarlo Di Gennaro, Giuseppe d'Orsi, Annarita Sabetta, Maria T. Di Claudio, Carlo Avolio, Fedele Dono, Giacomo Evangelista, Salvatore M. Cavalli, Vittoria Cianci, Michele Ascoli, Giovanni Mastroianni, Concetta Lobianco, Sabrina Neri, Sergio Mercuri, Anna Mammì, Antonio Gambardella, Ettore Beghi, Claudia Torino, Giovanni Tripepi, Umberto Aguglia
    Seizure, 2021
  • Idiopathic Intracranial Hypertension Without Intracranial Hypertension
    Mattia Sansone, Michelangelo De Angelis, Leonilda Bilo, Vincenzo Bonavita, Roberto De Simone
    Neurology Clinical Practice, 2021
  • Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation
    Antonella Riva, Antonietta Coppola, Ganna Balagura, Marcello Scala, Michele Iacomino, Francesca Marchese, Elisabetta Amadori, Simona Lattanzi, Roberta Meo, Salvatore Striano, Vincenzo Salpietro, Federico Zara, Carlo Minetti, Pasquale Striano, Leonilda Bilo
    Epileptic Disorders, 2021
  • Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature
    Giovanni Assenza, Cristofaro Nocerino, Mario Tombini, Giancarlo Di Gennaro, Alfredo D'Aniello, Alberto Verrotti, Alfonso Marrelli, Lorenzo Ricci, Jacopo Lanzone, Vincenzo Di Lazzaro, Leonilda Bilo, Antonietta Coppola
    Frontiers in Neurology, 2021
  • Long-term prognosis of juvenile myoclonic epilepsy: A systematic review searching for sex differences
    Loretta Giuliano, Greta Mainieri, Umberto Aguglia, Leonilda Bilo, Vania Durante, Caterina Ermio, Carlo Andrea Galimberti, Angela La Neve, Giulia Monti, Federica Ranzato, Elena Zambrelli, Barbara Mostacci
    Seizure, 2021
  • Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE)
    Barbara Mostacci, Federica Ranzato, Loretta Giuliano, Angela La Neve, Umberto Aguglia, Leonilda Bilo, Vania Durante, Caterina Ermio, Giulia Monti, Elena Zambrelli, Monica Anna Maria Lodi, Carlo Andrea Galimberti
    Seizure, 2021
  • Bergmeister's papilla in a young patient with type 1 sialidosis: Case report
    Settimio Rossi, Carlo Gesualdo, Antonio Tartaglione, Leonilda Bilo, Antonietta Coppola, Francesca Simonelli
    BMC Ophthalmology, 2020
  • Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy
    Giovanni Assenza, Jacopo Lanzone, Raffaele Dubbioso, Antonietta Coppola, Marilisa Boscarino, Lorenzo Ricci, Angelo Insola, Leonilda Bilo, Mario Tombini, Vincenzo Di Lazzaro
    Clinical Neurophysiology, 2020
  • Diagnosis and management of type 1 sialidosis: Clinical insights from long-term care of four unrelated patients
    Antonietta Coppola, Marta Ianniciello, Ebru N. Vanli-Yavuz, Settimio Rossi, Francesca Simonelli, Barbara Castellotti, Marcello Esposito, Stefano Tozza, Serena Troisi, Marta Bellofatto, Lorenzo Ugga, Salvatore Striano, Alessandra D’Amico, Betul Baykan, Pasquale Striano, Leonilda Bilo
    Brain Sciences, 2020
  • Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
    Andrea Accogli, Mariasavina Severino, Antonella Riva, Francesca Madia, Ganna Balagura, Michele Iacomino, Barbara Carlini, Simona Baldassari, Thea Giacomini, Carolina Croci, Livia Pisciotta, Tullio Messana, Antonella Boni, Angelo Russo, Leonilda Bilo, Rosa Tonziello, Antonietta Coppola, Alessandro Filla, Oriano Mecarelli, Rosario Casalone, Francesco Pisani, Raffaele Falsaperla, Silvia Marino, Pasquale Parisi, Alessandro Ferretti, Maurizio Elia, Anna Luchetti, Donatella Milani, Francesca Vanadia, Laura Silvestri, Erika Rebessi, Eliana Parente, Giampaolo Vatti, Maria Margherita Mancardi, Lino Nobili, Valeria Capra, Vincenzo Salpietro, Pasquale Striano, Federico Zara
    Seizure, 2020
  • Perampanel Confirms to Be Effective and Well-Tolerated as an Add-On Treatment in Patients With Brain Tumor-Related Epilepsy (PERADET Study)
    Antonietta Coppola, Alessia Zarabla, Andrea Maialetti, Veronica Villani, Tatiana Koudriavtseva, Emilio Russo, Agostino Nozzolillo, Chiara Sueri, Vincenzo Belcastro, Simona Balestrini, Edoardo Ferlazzo, Diana Giannarelli, Leonilda Bilo, Marta Maschio
    Frontiers in Neurology, 2020
  • Xq25 microduplication syndrome: A further contribution to its definition. A case report and review of the literature
    Giulia Turchi, Pia Bernardo, Alessandro Consales, Leonilda Bilo, Antonietta Coppola
    Clinical Dysmorphology, 2020
  • Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?
    Edoardo Ferlazzo, Serena Polidoro, Giuseppe Gobbi, Sara Gasparini, Chiara Sueri, Vittoria Cianci, Vito Sofia, Loretta Giuliano, Anna Teresa Giallonardo, Carlo Di Bonaventura, Sara Casciato, Tullio Messana, Antonietta Coppola, Salvatore Striano, Leonilda Bilo, Marika Monoriti, Giuseppe Genovese, Paola Sarica, Luciano Arcudi, Umberto Aguglia
    Seizure, 2019
  • Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features
    Maria Lieto, Alessandro Roca, Dario Bruzzese, Antonella Antenora, Girolamo Alfieri, Francesco Saccà, Marta Bellofatto, Leonilda Bilo, Stefano Barbato, Giuseppe De Michele, Alessandro Filla
    Neurological Sciences, 2019
  • Epidemiology and familial clustering of pediatric epilepsy in the geographic isolate of Ischia
    Vincenzo Buono, Giorgia Giussani, Elisa Bianchi, Vincenzo D’Ambrosio, Antonietta Coppola, Leonilda Bilo, Federico Zara, Pasquale Striano, Ettore Beghi
    Epilepsy Research, 2019
  • Valproate and female patients: Prescribing attitudes of Italian epileptologists
    Loretta Giuliano, Angela La Neve, Carlo Andrea Galimberti, Umberto Aguglia, Leonilda Bilo, Caterina Ermio, Giulia Monti, Elena Zambrelli, Corrado Zenesini, Barbara Mostacci
    Epilepsy and Behavior, 2019
  • Dissociative identity disorder: Restoration of executive functions after switch from alter to host personality
    Teresa Costabile, Leonilda Bilo, Anna De Rosa, Chiara Pane, Francesco Saccà
    Psychiatry and Clinical Neurosciences, 2018
  • Chorea-acanthocytosis without chorea: Expanding the clinical phenotype
    Silvio Peluso, Leonilda Bilo, Marcello Esposito, Antonella Antenora, Anna De Rosa, Sabina Pappatà, Giuseppe De Michele
    Parkinsonism and Related Disorders, 2017
  • Cognitive dysfunctions in occipital lobe epilepsy compared to temporal lobe epilepsy
    Gabriella Santangelo, Luigi Trojano, Carmine Vitale, Ilaria Improta, Irma Alineri, Roberta Meo, Leonilda Bilo
    Journal of Neuropsychology, 2017
  • Parkinsonism in adult-onset Rasmussens’s encephalitis: a clinical picture presenting as corticobasal syndrome
    Leonilda Bilo, Silvio Peluso, Antonella Antenora, Anna De Rosa, Marcello Esposito, Stefano Barbato, Sabina Pappatà, Giuseppe De Michele
    International Journal of Neuroscience, 2016
  • Infusion treatments and deep brain stimulation in Parkinson's Disease: The role of nursing
    Anna De Rosa, Alessandro Tessitore, Leonilda Bilo, Silvio Peluso, Giuseppe De Michele
    Geriatric Nursing, 2016
  • Long-term outcome of patients with disorders of consciousness with and without epileptiform activity and seizures: a prospective single centre cohort study
    Angelo Pascarella, Luigi Trojano, Vincenzo Loreto, Leonilda Bilo, Pasquale Moretta, Anna Estraneo
    Journal of Neurology, 2016
  • The magnetic apraxia of Denny-Brown
    S. Peluso, G. De Michele, A. Antenora, A. De Rosa, L. Bilo
    Neurology, 2016
  • CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations
    Leonilda Bilo, Antonella Antenora, Silvio Peluso, Enrico Maria Procaccini, Mario Quarantelli, Gelsomina Mansueto, Maria Sole Cigoli, Silvana Penco, Giuseppe De Michele
    Journal of Dermatology, 2016
  • TBC1D24 genotype-phenotype correlation
    Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattea J. Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaetan Lesca, Maria M. Mancardi, Anne L. Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Temis M. Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa M. Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothee Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert F. Ajeawung, Aslihan Tolun, Mark Corbett, Jozef Gecz, Zaid Afawi, Katherine B. Howell, Karen L. Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, Fabrizio A. de Falco, Peter L. Oliver, Pasquale Striano, Federico Zara, Phillipe M. Campeau, S.M. Sisodiya
    Neurology, 2016
  • Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism
    A. De Rosa, T. Pellegrino, S. Pappatà, M. Lieto, V. Bonifati, V. Palma, A. Topa, L. Santoro, L. Bilo, A. Cuocolo, G. De Michele
    Parkinsonism and Related Disorders, 2016
  • Connectivity and circuitry in a dish versus in a brain
    Vorapin Chinchalongporn, Peter Koppensteiner, Deborah Prè, Wipawan Thangnipon, Leonilda Bilo, Ottavio Arancio
    Alzheimer S Research and Therapy, 2015
  • Ionic homeostasis in brain conditioning
    Ornella Cuomo, Antonio Vinciguerra, Pierpaolo Cerullo, Serenella Anzilotti, Paola Brancaccio, Leonilda Bilo, Antonella Scorziello, Pasquale Molinaro, Gianfranco Di Renzo, Giuseppe Pignataro
    Frontiers in Neuroscience, 2015
  • PDCD10 gene mutations in multiple cerebral cavernous malformations
    Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P. Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco
    Plos One, 2014
  • DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome
    Philippe M. Campeau, Raoul C. Hennekam, The DOORS syndrome collaborative group
    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2014
  • The role of dural sinus stenosis in idiopathic intracranial hypertension pathogenesis: The self-limiting venous collapse feedback-loop model
    Panminerva Medica, 2014
  • Parkinsonism may be part of the symptom complex of DOOR syndrome
    Leonilda Bilo, Silvio Peluso, Antonella Antenora, Anna De Rosa, Gennaro Auletta, Sabina Pappatà, Giuseppe De Michele
    Parkinsonism and Related Disorders, 2014
  • Neuropsychological profile of adult patients with nonsymptomatic occipital lobe epilepsies
    Leonilda Bilo, Gabriella Santangelo, Ilaria Improta, Carmine Vitale, Roberta Meo, Luigi Trojano
    Journal of Neurology, 2013
  • Linkage exclusion in Italian families with hereditary essential tremor
    A. Novelletto, R. Gulli, P. Ciotti, C. Vitale, P. Malaspina, P. Blasi, T. Pippucci, M. Seri, A. Cozzolino, L. Bilo, G. Abbruzzese, P. Martinelli, E. Bellone, P. Barone, P. Mandich
    European Journal of Neurology, 2011
  • Is idiopathic intracranial hypertension without papilledema a risk factor for migraine progression?
    Roberto De Simone, Angelo Ranieri, Chiara Fiorillo, Leonilda Bilo, Vincenzo Bonavita
    Neurological Sciences, 2010
  • Levetiracetam in clinical practice: Efficacy and tolerability in epilepsy
    Leonilda Bilo, Maria Fulvia de Leva, Roberta Meo
    Canadian Journal of Neurological Sciences, 2010
  • Thalamic activation and cortical deactivation during typical absence status monitored using [18F]FDG-PET: A case report
    Leonilda Bilo, Roberta Meo, Maria Fulvia de Leva, Caterina Vicidomini, Marco Salvatore, Sabina Pappatà
    Seizure, 2010
  • Complex phenotype in an Italian family with a novel mutation in SPG3A
    Maria Fulvia Leva, Alessandro Filla, Chiara Criscuolo, Alessandra Tessa, Sabina Pappatà, Mario Quarantelli, Leonilda Bilo, Silvio Peluso, Antonella Antenora, Dario Longo, Filippo M. Santorelli, Giuseppe Michele
    Journal of Neurology, 2010
  • Differential neuropsychological profiles in Parkinsonian patients with or without vascular lesions
    Gabriella Santangelo, Carmine Vitale, Luigi Trojano, Danilo De Gaspari, Leonilda Bilo, Angelo Antonini, Paolo Barone
    Movement Disorders, 2010
  • Voxel-based morphometry in patients with cryptogenic occipital epilepsies. Preliminary data
    L. Bilo, M.F. De Leva, R. Meo, F. Tortora, F. Esposito, A. Aragri, A. Elefante
    Neuroradiology Journal, 2010
  • Transient epileptic amnesia: An emerging late-onset epileptic syndrome
    Leonilda Bilo, Roberta Meo, Patrizia Ruosi, Maria Fulvia De Leva, Salvatore Striano
    Epilepsia, 2009
  • Anoxia-induced NF-kB-dependent upregulation of NCX1 contributes to Ca 2+ refilling into endoplasmic reticulum in cortical neurons
    Rossana Sirabella, Agnese Secondo, Anna Pannaccione, Antonella Scorziello, Valeria Valsecchi, Annagrazia Adornetto, Leonilda Bilo, Gianfranco Di Renzo, Lucio Annunziato
    Stroke, 2009
  • Voxel-based morphometry in patients with probably symptomatic occipital epilepsy
    Bollettino Lega Italiana Contro L Epilessia, 2008
  • Polycystic ovary syndrome in women using valproate: A review
    Leonilda Bilo, Roberta Meo
    Gynecological Endocrinology, 2008
  • Levetiracetam in patients with epilepsy and chronic liver disease: Observations in a case series
    Leonilda Bilo, Roberta Meo, Maria Fulvia de Leva, Roberto De Simone, Pietro Di Nocera, Francesco Pisani, Salvatore Striano
    Clinical Neuropharmacology, 2008
  • Cranial neuralgias: From physiopathology to pharmacological treatment
    Roberto De Simone, Angelo Ranieri, Leonilda Bilo, Chiara Fiorillo, Vincenzo Bonavita
    Neurological Sciences, 2008
  • Neuroimaging follow-up in a case of Rasmussen's encephalitis with dyskinesias
    Maria Fulvia de Leva, Andrea Varrone, Alessandro Filla, Mario Quarantelli, Leonilda Bilo, Valeria Piscitelli, Elena Salvatore, Sara Ammendola, Salvatore Striano, Giuseppe de Michele, Vincenzo Bonavita, Sabina Pappatà
    Movement Disorders, 2007
  • Migraine and epilepsy: Clinical and pathophysiological relations
    R. De Simone, A. Ranieri, E. Marano, L. Beneduce, P. Ripa, L. Bilo, R. Meo, V. Bonavita
    Neurological Sciences, 2007
  • Epilepsy and polycystic ovary syndrome: Where is the link?
    L. Bilo, R. Meo
    Neurological Sciences, 2006
  • Idiopathic intracranial hypertension without headache
    R De Simone, E Marano, L Bilo, F Briganti, M Esposito, P Ripa, L Beneduce, V Bonavita
    Cephalalgia, 2006
  • Use of Levetiracetam in patients with epilepsy and chronic liver disease
    Bollettino Lega Italiana Contro L Epilessia, 2006
  • Levetiracetam in idiopathic generalised epilepsy and porphyria cutanea tarda
    Leonilda Bilo, Roberta Meo, Maria Fulvia de Leva
    Clinical Drug Investigation, 2006
  • Relationship between serum mono-hydroxy-carbazepine concentrations and adverse effects in patients with epilepsy on high-dose oxcarbazepine therapy
    Salvatore Striano, Pasquale Striano, Pierpaolo Di Nocera, Domenico Italiano, Cecilia Fasiello, Patrizia Ruosi, Leonilda Bilo, Francesco Pisani
    Epilepsy Research, 2006
  • Epilepsy in elderly: Efficacy and tolerability of Levetiracetam monotherapy
    Bollettino Lega Italiana Contro L Epilessia, 2005
  • Polycystic ovary syndrome and epilepsy: A review of the evidence
    Roberta Meo, Leonilda Bilo
    Drugs, 2003
  • The spectrum and the natural history of gelastic seizures-hypothalamic hamartoma syndrome
    Bollettino Lega Italiana Contro L Epilessia, 2003
  • Eyelid myoclonia with absences: An overlooked epileptic syndrome?
    Salvatore Striano, Pasquale Striano, Cristofaro Nocerino, Patrizia Boccella, Leonilda Bilo, Roberta Meo, Patrizia Ruosi
    Neurophysiologie Clinique, 2002
  • Small hypothalamic hamartomas and gelastic seizures
    Bollettino Lega Italiana Contro L Epilessia, 2002
  • Small hypothalamic hamartomas and gelastic seizures
    Epileptic Disorders, 2002
  • Tiagabine in glial tumors
    Salvatore Striano, Pasquale Striano, Patrizia Boccella, Cristofaro Nocerino, Leonilda Bilo
    Epilepsy Research, 2002
  • Incoercible topiramate-related vomiting in a patient with epilepsy and mental retardation [3]
    S. Striano, E. Marano, P. Striano, L. Bilo
    Neurological Sciences, 2001
  • Do gonadotropins play a role in catamenial epilepsy?
    Bollettino Lega Italiana Contro L Epilessia, 2001
  • Eyelid myoclonia with absences. An overlooked syndrome?
    Bollettino Lega Italiana Contro L Epilessia, 2001
  • Characterization of reproductive endocrine disorders in women with epilepsy
    Leonilda Bilo, Roberta Meo, Rossella Valentino, Costantino Di Carlo, Salvatore Striano, Carmine Nappi
    Journal of Clinical Endocrinology and Metabolism, 2001
  • Venous angiomas and epilepsy
    S. Striano, C. Nocerino, P. Striano, P. Boccella, R. Meo, L. Bilo, S. Cirillo
    Neurological Sciences, 2000
  • Facial myoclonus presenting as epilepsia partialis continua in a patient with an opercular lésion
    Italian Journal of Neurological Sciences, 1999
  • Facial myoclonus presenting as epilepsia partialis continua in a patient with an opercular lesion
    Bollettino Lega Italiana Contro L Epilessia, 1999
  • Cerebral venous angiomas and epilepsy
    Bollettino Lega Italiana Contro L Epilessia, 1999
  • Lamotrigine as add-on therapy in drug-resistant generalized epilepsies: Efficacy and tolerability
    Italian Journal of Neurological Sciences, 1999
  • Lamotrigine as add-on therapy in drug resistant generalized epilepsies: Efficacy and tolerability
    Bollettino Lega Italiana Contro L Epilessia, 1999
  • Venous angiomas and epilepsy
    Italian Journal of Neurological Sciences, 1999
  • Gelastic epilepsy: Symptomatic and cryptogenic cases
    Salvatore Striano, Roberta Meo, Leonilda Bilo, Sossio Cirillo, Cristofaro Nocerino, Patrizia Ruosi, Pasquale Striano, Anna Estraneo
    Epilepsia, 1999
  • Gelastic seizures-hypothalamic hamartoma syndrome: Study on five patients
    Bollettino Lega Italiana Contro L Epilessia, 1998
  • Vigabatrin in add-on therapy in drug-resistant epilepsies. Seven years' experience: Retrospective study on 220 patients
    Bollettino Lega Italiana Contro L Epilessia, 1998
  • Effects of Valproate or of Valproate-Lamotrigine association in partial epilepsy patients resistent to Carbamazepine or to Carbamazepine-Lamotrigine association: Preliminary results
    Bollettino Lega Italiana Contro L Epilessia, 1997
  • Reflex epilepsies: Up-to-date
    Bollettino Lega Italiana Contro L Epilessia, 1996
  • Epilepsy and neuronal migration disorders: Patient series from the epilepsy center of 'Federico II' University, Naples
    Bollettino Lega Italiana Contro L Epilessia, 1996
  • Transient global amnesia of epileptic origin accompanied by fever
    Roberta Meo, Leonilda Bilo, Salvatore Striano, Patrizia Ruosi, Anna Estraneo, Cristofaro Nocerino
    Seizure European Journal of Epilepsy, 1995
  • Vigabatrin in add-on therapy in partial, drug resistant epilepsies: Are there any predictive criteria for its efficacy?
    Bollettino Lega Italiana Contro L Epilessia, 1994
  • Epileptic seizures occurring with transient global amnesia and fever
    Bollettino Lega Italiana Contro L Epilessia, 1994
  • Reduced fertility and neuroendocrine dysfunction in women with epilepsy
    C. Nappi, R. Meo, C. Di Carlo, A. Estraneo, L. Bilo
    Gynecological Endocrinology, 1994
  • Timed EEG recordings in accordance with female sex hormone fluctuations
    Bollettino Lega Italiana Contro L Epilessia, 1993
  • Depression in epilepsy: Prevalence in a group of out-patients of the Epilepsy Center of the University of Naples
    Bollettino Lega Italiana Contro L Epilessia, 1993
  • Epilepsia arithmetices: study of four cases
    Salvatore Striano, Roberta Meo, Leonilda Bilo, Maria Soricellis, Patrizia Ruosi
    Seizure, 1993
  • Derangement of the hypothalamic GnRH pulse generator in women with epilepsy
    Roberta Meo, Leonilda Bilo, Carmine Nappi, Antonio P. Tommaselli, Rossella Valentino, Cristofaro Nocerino, Salvatore Striano, Giuseppe A. Buscaino
    Seizure, 1993
  • Seizures induced by calculation: Clinical-EEG study of four cases
    Bollettino Lega Italiana Contro L Epilessia, 1992
  • Partial self induced seizures: An uncommon motivation for auto-induction [6]
    S Striano, R Meo, L Bilo, P Ruosi
    Journal of Neurology Neurosurgery and Psychiatry, 1992
  • The use of EEG activating procedures in epileptology.
    Acta Neurologica, 1992
  • Dysregulation of the hypothalamus-pituitary-ovarian axis in primary generalized epilepsy
    Bollettino Lega Italiana Contro L Epilessia, 1991
  • Abnormal pattern of luteinizing hormone pulsatility in women with epilepsy
    Leonilda Bilo, Roberta Meo, Rossella Valentino, Giuseppe A. Buscaino, Salvatore Striano, Carmine Nappi
    Fertility and Sterility, 1991
  • Recurrent frontal status epilepticus with polymorphic clinical features. A case report.
    Acta Neurologica, 1990
  • The physiopathology of supranuclear structures in oculomotor disorders
    Acta Neurologica, 1990
  • ACTH treatment in electrical status epilepticus during sleep (ESES)
    Bollettino Lega Italiana Contro L Epilessia, 1990
  • Twins and epilepsy: Clinical-EEG correlations
    Bollettino Lega Italiana Contro L Epilessia, 1989
  • Hearing loss associated with progressive ataxia (Lichtenstein-Knorr disease?). Report of a sporadic case with peculiar neuroradiological findings.
    Acta Neurologica, 1989
  • Conventional EEG in the differential diagnosis of dementia syndromes.
    Acta Neurologica, 1988
  • Serum prolactin evaluation after 'minor' generalised seizures monitored by EEG
    L Bilo, R Meo, S Striano
    Journal of Neurology Neurosurgery and Psychiatry, 1988
  • Reproductive Endocrine Disorders in Women with Primary Generalized Epilepsy
    Leonilda Bilo, Roberta Meo, Carmine Nappi, Lucio Annunziato, Salvatore Striano, Anna Maria Colao, Bartolomeo Merola, Giuseppe Andrea Buscaino
    Epilepsia, 1988
  • Partial "primary" epilepsies. Case series of the Center for the Study of Epilepsy of the Neurology Clinic of the 2d Faculty of Medicine of Naples
    Acta Neurologica, 1986
  • Eye movements in degenerative infratentorial disorders
    Acta Neurologica, 1986
  • Fahr syndrome with and without hypoparathyroidism. 2 cases
    Acta Neurologica, 1986
  • An unusual case of Kleine-Levin syndrome associated with sleep terrors
    S Striano, L Bilo, R Meo
    Electroencephalography and Clinical Neurophysiology, 1986
  • A unique case of 'masturbatory' seizures in primary generalized epilepsy
    Acta Neurologica, 1985
  • Reflex epilepsy: A proposal for classification and pathogenetic suggestions
    Acta Neurologica, 1985
  • Reflex epilepsies: A proposal for an 'etiological' classification
    Bollettino Lega Italiana Contro L Epilessia, 1985
  • Benign intracranial hypertension of obese women. A twenty cases report.
    Acta Neurologica, 1984
  • Subacute sclerosing panencephalitis: EEG findings in 12 cases observed in the years 1975-1982.
    Acta Neurologica, 1984
  • Physiopathology and clinical aspects of nystagmus (1)
    Acta Neurologica, 1983
  • Sleep apnea syndrome in Thomsen's diseae. A case report
    S Striano, R Meo, L Bilo, S Vitolo
    Electroencephalography and Clinical Neurophysiology, 1983
  • The electroencephalogram in dementia. Differential diagnostic value in Alzheimer's disease, senile dementia and multi-infarct dementia
    Acta Neurologica, 1981