Editorial

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Open AccessEditorial

Diagnosis and Treatment of Drug-Resistant Epilepsy: Present and Future Perspectives

by Giovanni Assenza

Brain Sci. 2020, 10(11), 779; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10110779 - 26 Oct 2020

Cited by 2 | Viewed by 1874

The introduction of the operative definition of drug-resistant epilepsy (DRE) was a turning point for clinicians and people with epilepsy (PwE) [...] Full article

(This article belongs to the Special Issue Advances in Epilepsy)

Research

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9 pages, 905 KiB

Open AccessArticle

Fatal Status Epilepticus in Dravet Syndrome

by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout and Federico Vigevano

Brain Sci. 2020, 10(11), 889; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10110889 - 23 Nov 2020

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Abstract

Dravet Syndrome (DS) is burdened by high epilepsy-related premature mortality due to status epilepticus (SE). We surveyed centres within Europe through the Dravet Italia Onlus and EpiCARE network (European Reference Network for Rare and Complex Epilepsies). We collated responses on seven DS SCN1A+ [...] Read more.

Dravet Syndrome (DS) is burdened by high epilepsy-related premature mortality due to status epilepticus (SE). We surveyed centres within Europe through the Dravet Italia Onlus and EpiCARE network (European Reference Network for Rare and Complex Epilepsies). We collated responses on seven DS SCN1A+ patients who died following refractory SE (mean age 6.9 year, range 1.3–23.4 year); six were on valproate, clobazam, and stiripentol. All patients had previous SE. Fatal SE was always triggered by fever: either respiratory infection or one case of hexavalent vaccination. SE lasted between 80 min and 9 h and all patients received IV benzodiazepines. Four patients died during or within hours of SE; in three patients, SE was followed by coma with death occurring after 13–60 days. Our survey supports the hypothesis that unresponsive fever is a core characteristic feature of acute encephalopathy. We highlight the need for management protocols for prolonged seizures and SE in DS. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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16 pages, 4023 KiB

Open AccessArticle

Early Onset Epilepsy Caused by Low-Grade Epilepsy-Associated Tumors and Focal Meningeal Involvement

by Luca De Palma, Chiara Pepi, Alessandro De Benedictis, Nicola Pietrafusa, Angela Mastronuzzi, Antonella Cacchione, Giusy Carfì-Pavia, Camilla Rossi-Espagnet, Francesca Diomedi-Camassei, Sabrina Rossi, Antonio Napolitano, Andrea Carai, Giovanna Stefania Colafati, Daniela Longo, Paolo Curatolo, Federico Vigevano, Carlo Efisio Marras and Nicola Specchio

Brain Sci. 2020, 10(10), 752; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10100752 - 18 Oct 2020

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Abstract

Background: Low-grade epilepsy-associated neuroepithelial tumors (LEATs) are a frequent etiology in pediatric patients with epilepsy undergoing surgery. Objective: To identify differences in clinical and post-surgical follow-up between patients with focal meningeal involvement (MI) and those without MI within our cohort of [...] Read more.

Background: Low-grade epilepsy-associated neuroepithelial tumors (LEATs) are a frequent etiology in pediatric patients with epilepsy undergoing surgery. Objective: To identify differences in clinical and post-surgical follow-up between patients with focal meningeal involvement (MI) and those without MI within our cohort of pediatric patients with LEATs. Methods: We retrospectively reviewed all pediatric patients (<18 y) who underwent epilepsy surgery between 2011 and 2017 at our hospital. Cohort inclusion required histological diagnosis of LEATs and post-surgical follow-up of ≥2 y. We subsequently stratified patients according to presence of neuroradiological MI. Results: We identified 37 patients: five with MI and 32 without. Half of patients (19) were drug sensitive at surgery; similar between groups. The group with MI differed mainly for age of epilepsy-onset (0.6 vs. 7.0 y) but not for epilepsy duration (0.9 vs. 1.5 y). Post-surgery radiological follow-up (median 4.0 y; IQR 2.8–5.0 y) did not indicate disease progression. Seizure outcome was excellent in both groups, with 34 patients overall being both drug- and seizure-free. Conclusions: Our study identified a new subgroup of LEATs with focal MI and excellent post-surgical outcome. Moreover, this highlights the effectiveness of early surgery in pediatric LEATs. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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12 pages, 1850 KiB

Open AccessArticle

Transcutaneous Vagus Nerve Stimulation Modulates EEG Microstates and Delta Activity in Healthy Subjects

by Lorenzo Ricci, Pierpaolo Croce, Jacopo Lanzone, Marilisa Boscarino, Filippo Zappasodi, Mario Tombini, Vincenzo Di Lazzaro and Giovanni Assenza

Brain Sci. 2020, 10(10), 668; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10100668 - 25 Sep 2020

Cited by 24 | Viewed by 4616

Abstract

Transcutaneous vagus nerve stimulation (tVNS) is an alternative non-invasive method for the electrical stimulation of the vagus nerve with the goal of treating several neuropsychiatric disorders. The objective of this study is to assess the effects of tVNS on cerebral cortex activity in [...] Read more.

Transcutaneous vagus nerve stimulation (tVNS) is an alternative non-invasive method for the electrical stimulation of the vagus nerve with the goal of treating several neuropsychiatric disorders. The objective of this study is to assess the effects of tVNS on cerebral cortex activity in healthy volunteers using resting-state microstates and power spectrum electroencephalography (EEG) analysis. Eight male subjects aged 25–45 years were recruited in this randomized sham-controlled double-blind study with cross-over design. Real tVNS was administered at the left external acoustic meatus, while sham stimulation was performed at the left ear lobe, both of them for 60 min. The EEG recording lasted 5 min and was performed before and 60 min following the tVNS experimental session. We observed that real tVNS induced an increase in the metrics of microstate A mean duration (p = 0.039) and an increase in EEG power spectrum activity in the delta frequency band (p < 0.01). This study confirms that tVNS is an effective way to stimulate the vagus nerve, and the mechanisms of action of this activation can be successfully studied using scalp EEG quantitative metrics. Future studies are warranted to explore the clinical implications of these findings and to focus the research of the prognostic biomarkers of tVNS therapy for neuropsychiatric diseases. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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13 pages, 1186 KiB

Open AccessArticle

Power Spectral Differences between Transient Epileptic and Global Amnesia: An eLORETA Quantitative EEG Study

by Jacopo Lanzone, Claudio Imperatori, Giovanni Assenza, Lorenzo Ricci, Benedetto Farina, Vincenzo Di Lazzaro and Mario Tombini

Brain Sci. 2020, 10(9), 613; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10090613 - 06 Sep 2020

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Abstract

Transient epileptic amnesia (TEA) is a rare epileptic condition, often confused with transient global amnesia (TGA). In a real-life scenario, differential diagnosis between these two conditions can be hard. In this study we use power spectral analysis empowered by exact Low Resolution Brain [...] Read more.

Transient epileptic amnesia (TEA) is a rare epileptic condition, often confused with transient global amnesia (TGA). In a real-life scenario, differential diagnosis between these two conditions can be hard. In this study we use power spectral analysis empowered by exact Low Resolution Brain Electromagnetic Tomography (eLORETA) to evidence the differences between TEA and TGA. Fifteen patients affected by TEA (64.2 ± 5.2 y.o.; 11 female/4 male; 10 left and 5 right temporal epileptic focus) and 15 patients affected by TGA (65.8 ± 7.2 y.o.; 11 females/4 males) were retrospectively identified in our clinical records. All patients recorded EEGs after symptoms offset. EEGs were analyzed with eLORETA to evidence power spectral contrast between the two conditions. We used an inverse problem solution to localize the source of spectral differences. We found a significant increase in beta band power over the affected hemisphere of TEA patients. Significant results corresponded to the uncus and para-hippocampal gyrus, respectively Brodmann’s Areas: 36, 35, 28, 34. We present original evidence of an increase in beta power in the affected hemisphere (AH) of TEA as compared to TGA. These differences involve key areas of the memory network located in the mesial temporal lobe. Spectral asymmetries could be used in the future to recognize cases of amnesia with a high risk of epilepsy. Full article

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17 pages, 6577 KiB

Open AccessArticle

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

by 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 and Leonilda Bilo

Brain Sci. 2020, 10(8), 506; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10080506 - 01 Aug 2020

Cited by 8 | Viewed by 3172

Abstract

Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be [...] Read more.

Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. It is commonly characterized by progressive myoclonus, ataxia, and a macular cherry-red spot. As a rare condition, the diagnosis is often only made after few years from onset, and the clinical management might prove difficult. Furthermore, the information in the literature on the long-term course is scarce. Case presentations: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. Discussion and conclusions: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic–clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G > A) is described. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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9 pages, 822 KiB

Open AccessArticle

Ictal Asystole in Drug-Resistant Focal Epilepsy: Two Decades of Experience from an Epilepsy Monitoring Unit

by Sara Casciato, Pier Paolo Quarato, Addolorata Mascia, Alfredo D’Aniello, Vincenzo Esposito, Roberta Morace, Luigi Pavone, Carlo Di Bonaventura, Mario Tombini, Giovanni Assenza and Giancarlo Di Gennaro

Brain Sci. 2020, 10(7), 443; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10070443 - 12 Jul 2020

Cited by 7 | Viewed by 2737

Abstract

Background: Ictal asystole (IA) is a rare event observed in people with epilepsy (PwE). Clinical and IA video-electroencephalographic findings may be helpful in screening for high-risk subjects. Methods: From all PwE undergoing video-EEG for presurgical evaluation between 2000 and 2019, we retrospectively selected [...] Read more.

Background: Ictal asystole (IA) is a rare event observed in people with epilepsy (PwE). Clinical and IA video-electroencephalographic findings may be helpful in screening for high-risk subjects. Methods: From all PwE undergoing video-EEG for presurgical evaluation between 2000 and 2019, we retrospectively selected those with at least one IA (R–R interval of ≥3 s during a seizure). Results: IA was detected in eight out of 1088 (0.73%) subjects (mean age: 30 years; mean epilepsy duration: 9.6 years). Four out of them had a history of atonic falls. No patients had cardiac risk factors or cardiovascular diseases. Seizure onset was temporal (n = 5), temporo-parietal (n = 1) or frontal (n = 2), left-sided and right-sided in five and two patients, respectively. In one case a bilateral temporal independent seizure onset was recorded. IA was recorded in 11 out of 18 seizures. Mean IA duration was 13 s while mean IA latency from seizure onset was 26.7 s. Symptoms related to IA were observed in all seizures. Conclusion: IA is a rare and self-limiting event often observed during video-EG in patients with a history of atonic loss of consciousness and/or tardive falls in the course of a typical seizure. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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Review

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13 pages, 419 KiB

Open AccessReview

by Nicola Specchio, Nicola Pietrafusa, Costanza Calabrese, Marina Trivisano, Chiara Pepi, Luca de Palma, Alessandro Ferretti, Paolo Curatolo and Federico Vigevano

Brain Sci. 2020, 10(11), 768; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10110768 - 23 Oct 2020

Cited by 6 | Viewed by 3319

Abstract

Background: The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epilepsy related to POLG1 mutation. Methods: The [...] Read more.

Background: The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epilepsy related to POLG1 mutation. Methods: The articles for review were identified through a systematic research on PubMed and EMBASE databases from January 2003 to April 2020, searching for the terms “Epilepsy AND POLG OR polymerase gamma,” OR “POLG1”. Results: Forty-eight articles were selected for review, which included 195 patients. Two main peaks of age at epilepsy onset were found: at ages 1 and 13 years. The most frequent seizure type was myoclonic. The occurrence of Status Epilepticus was reported in 46.4% of cases. Epileptiform and slow abnormalities were most frequently seen over occipital regions. Brain Magnetic Resonance Imaging (MRI) revealed increased T2 signal intensities in thalamic regions. Genetic analysis revealed a prevalence of A467T, W748S and G848S (74.2% of patients) mutations. Survival at 5 years was estimated at very low levels (30.2% of patients). Conclusion: In this review, we included cases with both pediatric and adult epilepsy onset. The analysis of data regarding prognosis showed that survival is related to age at onset of epilepsy. Full article

(This article belongs to the Special Issue Advances in Epilepsy)

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Other

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2 pages, 177 KiB

Open AccessReply

Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”

by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout and Federico Vigevano

Brain Sci. 2021, 11(6), 811; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci11060811 - 18 Jun 2021

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Abstract

It has been an honor for us to receive a comment on our article “Fatal Status Epilepticus in Dravet Syndrome” [...] Full article

(This article belongs to the Special Issue Advances in Epilepsy)

3 pages, 191 KiB

Open AccessComment

Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889

by Charlotte Dravet

Brain Sci. 2021, 11(6), 792; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci11060792 - 16 Jun 2021

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Abstract