Special Issue "Advances in Epilepsy"

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Clinical Neuroscience".

Deadline for manuscript submissions: 30 November 2020.

Special Issue Editor

Dr. Giovanni Assenza
Website SciProfiles
Guest Editor
Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, Italy
Interests: epilepsy; EEG; VNS; tDCS; TMS; stroke

Special Issue Information

Dear Colleagues,

Epilepsy research is experiencing a new era due to rapid advances guaranteed by the new frontiers of basic sciences. Genetics has revolutionized the vision of idiopathic epilepsies and, together with pharmacology and biotechnology, opened the doors of precision medicine. The application of physics, mathematics, engineering, and computer science to neuroradiology and neurophysiology has allowed for more precise localization of the epileptic focus and a deeper understanding of epilepsy pathophysiology. Thanks to these advancements, focal onset epilepsy is no longer considered only a mere focal brain dysfunction but a network disorder involving all of the circuits interconnected with the focus itself.

The purpose of this Special Issue is to publish original research in the clinical, surgical, genetic, neurophysiological, neuroradiology, neuromodulation, neurocognitive, and neuroengineering fields which contributes to consolidating, promoting, and developing these new modern concepts of epilepsy.

Dr. Giovanni Assenza
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epilepsy
  • EEG
  • vagal nerve stimulation
  • neuromodulation
  • tDCS
  • TMS
  • network
  • genetic
  • surgery
  • cognitive

Published Papers (2 papers)

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Research

Open AccessArticle
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients
Brain Sci. 2020, 10(8), 506; https://doi.org/10.3390/brainsci10080506 - 01 Aug 2020
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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Open AccessArticle
Ictal Asystole in Drug-Resistant Focal Epilepsy: Two Decades of Experience from an Epilepsy Monitoring Unit
Brain Sci. 2020, 10(7), 443; https://doi.org/10.3390/brainsci10070443 - 12 Jul 2020
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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