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, et al.
    Clinical Neurophysiology Practice, 2026
  • 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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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
  • Current treatment options for familial adult myoclonus epilepsy
    Antonietta Coppola, Raffaele Dubbioso, Claudia Cuccurullo, Laura Licchetta, Mar Carreno, et al.
    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, et al.
    Seizure, 2022
  • Hydranencephaly in CENPJ-related Seckel syndrome
    Claudia Cuccurullo, Giuseppina Miele, Gianluca Piccolo, Leonilda Bilo, Andrea Accogli, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    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, et al.
    BMC Ophthalmology, 2020
  • Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy
    Giovanni Assenza, Jacopo Lanzone, Raffaele Dubbioso, Antonietta Coppola, Marilisa Boscarino, et al.
    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, et al.
    Brain Sciences, 2020
  • Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
    Andrea Accogli, Mariasavina Severino, Antonella Riva, Francesca Madia, Ganna Balagura, et al.
    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, et al.
    Frontiers in Neurology, 2020