Publications by authors named "Giancarlo Di Gennaro"

Objective: To study the current practice of epilepsy surgery in Italy and the relative impact of coronavirus disease 2019 (COVID-19) pandemic on it.

Methods: We launched a survey through the Italian National Virtual Epilepsy Institute, to identify centers with epilepsy surgery programs and collect data on the current preoperative and surgical practices. We reported changes in surgical volumes and complications and seizure outcomes between 2018 and 2022, that is, before and after the COVID-19 pandemic in Italy.

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Objective: Drug-resistant epilepsy (DRE) affects approximately one-third of people with epilepsy (PwE) despite advancements in anti-seizure medications and presents significant challenges in epilepsy care. This Delphi consensus study aimed to examine key aspects of DRE, including its definition, predictors, and therapeutic strategies.

Methods: A steering committee consisting of clinicians and researchers with expertise in epilepsy was responsible for formulating the statements.

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Objective: The AMPA study (Study 501; NCT04257604) was a multicenter, prospective, 12-month observational study in Italy that evaluated the effectiveness and safety of adjunctive perampanel in patients with focal-onset seizures (FOS), with or without focal to bilateral tonic-clonic seizures (FBTCS).

Methods: Patients aged ≥12 years with insufficiently controlled FOS, with or without FBTCS, receiving 1-3 anti-seizure medications (ASMs) were prescribed adjunctive perampanel per the approved indication. The primary endpoint was the median percent change in total seizure frequency per 28 days from baseline at Month 6.

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The co-occurrence of Rasmussen encephalitis (RE) and localized scleroderma (LS) is rare and poorly known. We describe the unique case of a 23-year-old patient with late-onset RE of the right hemisphere, emerging 15 years following LS of the left lower limb exclusively. Furthermore, through a systematic review of existing literature, we delineate distinct characteristics of RE concomitant with LS: a delayed onset compared to classical RE cases; its occurrence either preceding or succeeding LS; and the variable involvement of the ipsilateral or contralateral hemisphere to the affected craniofacial skin.

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Objective: This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response.

Methods: This study was conducted across 27 epilepsy centers and included patients with monogenic epileptic disorders (pathogenic or likely pathogenic variants) who were treated with highly purified CBD for at least 3 months.

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Objective: Previous neuroimaging studies indicate complex network alterations in psychogenic non-epileptic seizures (PNES) patients, but brain activity modifications occurring during PNES remain unexplored. This study aimed to analyze EEG microstate metrics in PNES patients both during events and resting state to investigate the neurophysiological changes underlying these dissociative events.

Methods: We recruited 22 PNES patients and 24 age- and sex-matched healthy controls.

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Objective: Cenobamate is an antiseizure medication (ASM) with a dual mechanism of action that was recently approved for the treatment of focal seizures in adults. This analysis aimed to describe the outcomes at 12 and 24 weeks after starting cenobamate therapy in a real-world setting.

Methods: BLESS [NCT05859854] is an ongoing, observational, retrospective and prospective cohort study to evaluate the real-world effectiveness and safety of adjunctive cenobamate in adults with uncontrolled focal epilepsy.

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Introduction: Subjects with intellectual disability are usually excluded from clinical trials and there is limited evidence-based guidance for the choice of antiseizure medications in this vulnerable population. The study explored the effectiveness of brivaracetam (BRV) in people with epilepsy and intellectual disability.

Methods: BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST) was a 12-month retrospective, multicenter study including adults prescribed adjunctive BRV.

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Importance: Women with idiopathic generalized epilepsy (IGE) face challenges in treatment due to limited options that are both effective and safe.

Objective: To evaluate the effectiveness and safety of substitution monotherapy vs add-on therapy as second-line options for women who might become pregnant with IGE after failure of first-line antiseizure medications (ASMs) other than valproic acid.

Design, Setting, And Participants: Multicenter retrospective comparative effectiveness cohort study at 18 primary, secondary, and tertiary adult and children epilepsy centers across 4 countries, analyzing data from 1995 to 2023.

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Heteromeric nicotinic acetylcholine nAChRs (nAChRs) containing the α4 and β2 subunits (α4β2 nAChRs) modulate neurotransmitter release in several regions of the brain. In temporal lobe epilepsy, inhibitory GABAergic neurotransmission is altered, whereas no evidence of nicotinic dysfunction has been reported. Here, we investigated, in human epileptic cortical tissues, the ability of α4β2 nAChRs to modulate synaptic transmission.

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Background: A growing body of evidence supports the effectiveness of cenobamate (CNB). This study aimed to assess the clinical response to add-on CNB through a time-to-event approach and explore the potential contribution of the concomitant classes of antiseizure medications (ASMs) to improve CNB clinical use.

Patients And Methods: This study is a subgroup analysis of a larger retrospective, multicenter study on adults with focal-onset seizures participating in the Italian Expanded Access Program at five pre-established centers.

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Objective: Diagnosing autoimmune limbic encephalitis (ALE) in adults with new-onset seizures can be challenging, especially when seizures represent the predominant manifestation and MRI findings are not straightforward. By comparison with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), this study aimed to identify ictal electro-clinical features that might help clinicians recognize ALE-related seizures.

Methods: This retrospective, multi-centre study analysed the ictal semiology and EEG correlate of 116 video-EEG-captured seizures in 40 ALE patients and 45 ones recorded in 21 MTLE-HS subjects.

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

Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics.

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Article Synopsis
  • Cenobamate has proven effective for patients with treatment-resistant epilepsy, including those who still experience seizures post-surgery, leading experts to recommend its use during the surgical evaluation process.
  • A panel of six epilepsy specialists suggests that both cenobamate and antiseizure medication (ASM) should be personalized and optimized during presurgical evaluations, with cenobamate potentially helping many patients achieve seizure freedom.
  • While cenobamate can be initiated before surgery, especially for patients not ideal for surgery, it should not delay necessary operations, and patients may choose to forgo surgery if they attain lasting seizure control with cenobamate.
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Objective: This study was undertaken to assess the effectiveness/tolerability of adjunctive cenobamate, variations in the load of concomitant antiseizure medications (ASMs) and predictors of clinical response in people with focal epilepsy.

Methods: This was a retrospective study at 21 centers participating in the Italian Expanded Access Program. Effectiveness outcomes included retention and responder rates (≥50% and 100% reduction in baseline seizure frequency).

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Article Synopsis
  • * A multicenter study reanalyzed the effectiveness of LEV vs. LTG, revealing that LTG had significantly lower treatment failure rates and better medication retention than LEV.
  • * Both medications had similar safety profiles, and while there were no notable differences in achieving total seizure freedom, LTG showed a strong likelihood of being superior for overall treatment effectiveness.
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Article Synopsis
  • Lennox-Gastaut syndrome (LGS) is a severe epilepsy affecting adults and this study explores long-term cognitive and adaptive behavior outcomes in adults with LGS, an area not extensively studied before.
  • *The study involved 38 adults with LGS, finding that all participants had low adaptive behavior scores, especially in daily living skills and socialization, with younger diagnosis age linked to worse outcomes.
  • *Results showed specific associations between clinical factors (like seizure frequency and EEG abnormalities) with lower adaptive behavior scores, and treatment with cannabidiol was linked to better outcomes compared to benzodiazepines.
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Introduction: Mesial temporal lobe epilepsy (MTLE) is one of the most prevalent forms of focal epilepsy in surgical series, particularly among adults. Over the decades, different surgical strategies have been developed to address drug-resistant epilepsy while safeguarding neurological and cognitive functions. Among these strategies, anterior temporal lobectomy (ATL), involving the removal of the temporal pole and mesial temporal structures, has emerged as a widely employed technique.

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Objective: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.

Methods: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome.

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Introduction: Despite new anti-seizure medications (ASMs) being introduced into clinical practice, about one-third of people with epilepsy do not reach seizure control. Cenobamate is a novel tetrazole-derived carbamate compound with a dual mechanism of action. In randomized controlled trials, adjunctive cenobamate reduced the frequency of focal seizures in people with uncontrolled epilepsy.

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Background: Temporal lobe epilepsy associated with hippocampal sclerosis (TLE-HS) is a surgically treatable epileptic syndrome. While the core of pre-surgical evaluations rely on video-EEG, recent studies question the necessity of recorded seizures denying a possible role of ictal EEG in surgical decision. This study aims to retrospectively assess the prognostic value of EEG ictal patterns in TLE-HS, in order to identify which patients need further investigations before offering surgery.

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Background: Epilepsy, a globally prevalent neurological condition, presents distinct challenges in management, particularly for focal-onset types. This study aimed at addressing the current challenges and perspectives in focal epilepsy management, with focus on the Italian reality.

Methods: Using the Delphi methodology, this research collected and analyzed the level of consensus of a panel of Italian epilepsy experts on key aspects of focal epilepsy care.

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