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Brain Sciences
Special Issues
Epilepsy and Neurological Symptoms in Neurometabolic Diseases
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Epilepsy and Neurological Symptoms in Neurometabolic Diseases

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

Deadline for manuscript submissions: closed (25 July 2021) | Viewed by 14109

Special Issue Editors

Prof. Dr. Stephanie Grunewald

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Guest Editor
Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK
Prof. Dr. Justyna Paprocka

E-Mail Website
Guest Editor
Department of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, Poland
Interests: epilepsy; neurometabolic disorders; neurodevelopmenta
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurometabolic diseases affecting the pediatric brain are complex and rare conditions. The underlying mechanisms leading to structural damage are diverse and the diagnostic imaging manifestations are often nonspecific. The clinical spectra mainly consist of neurological symptoms. Early and specific diagnosis may prove crucial for further management and treatment. In recent years, extraordinary progress has been made in developing effective treatments for rare disorders. However, there are still many challenges regarding an extended gene panel for investigating complex neurometabolic phenotypes. Furthermore, the quantity of neurometabolic disorders is expected to grow substantially due to advanced genetic diagnostics.

On behalf of the Editorial Office, we invite you to contribute your research papers, review articles, and interesting case reports for peer-review and possible publication.

We invite papers that focus on, but not limited to, the different neurological symptoms of epileptic seizures, neurological signs and symptoms in metabolic disorders, and the management and care of patients with inborn errors of metabolism (IEM) by multidisciplinary teams of physicians. Moreover, descriptions of long-term follow-up of epilepsy in IEM patients will be paid particular attention.

Prof. Dr. Stephanie Grunewald
Prof. Dr. Justyna Paprocka

Guest Editors

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 submissions that pass pre-check are 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 2200 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
  • children
  • neurometabolic disorders

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Published Papers (3 papers)

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Review

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10 pages, 257 KiB  
Review
Update on Neuropathies in Inborn Errors of Metabolism
by Renata Pająk, Ewelina Mendela, Natalia Będkowska and Justyna Paprocka
Brain Sci. 2021, 11(6), 763; https://doi.org/10.3390/brainsci11060763 - 8 Jun 2021
Cited by 3 | Viewed by 2642
Abstract
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet. This article aims to review and compare neuropathies in inborn errors of [...] Read more.
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet. This article aims to review and compare neuropathies in inborn errors of metabolism, mostly with childhood and juvenile onset. Some of these diseases are treatable if diagnosed early and in many cases, the therapy can not only slow down disease progression, but can also reverse the changes already made by the condition. Full article
(This article belongs to the Special Issue Epilepsy and Neurological Symptoms in Neurometabolic Diseases)
25 pages, 398 KiB  
Review
Congenital Disorders of Glycosylation from a Neurological Perspective
by Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska and Stephanie Grunewald
Brain Sci. 2021, 11(1), 88; https://doi.org/10.3390/brainsci11010088 - 11 Jan 2021
Cited by 61 | Viewed by 7777
Abstract
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins. Since glycosylation processes are necessary for many different biological processes, patients present [...] Read more.
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins. Since glycosylation processes are necessary for many different biological processes, patients present a diverse spectrum of phenotypes and severity of symptoms. The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5. On brain neuroimaging, atrophic changes of the cerebellum and cerebrum are frequently seen. Brain malformations particularly in the group of dystroglycanopathies are reported. Despite the growing number of CDG patients in the world and often neurological symptoms dominating in the clinical picture, the number of performed screening tests eg transferrin isoforms is systematically decreasing as broadened genetic testing is recently more favored. The aim of the review is the summary of selected neurological symptoms in CDG described in the literature in one paper. It is especially important for pediatric neurologists not experienced in the field of metabolic medicine. It may help to facilitate the diagnosis of this expanding group of disorders. Biochemically, this paper focuses on protein glycosylation abnormalities. Full article
(This article belongs to the Special Issue Epilepsy and Neurological Symptoms in Neurometabolic Diseases)

Other

Jump to: Review

11 pages, 4774 KiB  
Case Report
Dramatic Course of Paediatric Cryptogenic Febrile Infection-Related Epilepsy Syndrome with Unusual Chronic Phase Presentation—A Case Report with Literature Study
by Natalia Rachfalska, Jerzy Pietruszewski and Justyna Paprocka
Brain Sci. 2021, 11(8), 1030; https://doi.org/10.3390/brainsci11081030 - 2 Aug 2021
Cited by 6 | Viewed by 2847
Abstract
Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. It strikes previously healthy school-aged children and is usually cryptogenic. Its dramatic onset with refractory status epilepticus is always preceded by a nonspecific febrile illness. The seizure activity in FIRES may [...] Read more.
Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. It strikes previously healthy school-aged children and is usually cryptogenic. Its dramatic onset with refractory status epilepticus is always preceded by a nonspecific febrile illness. The seizure activity in FIRES may last for several weeks with little to no response to antiepileptic treatment, usually resulting in the usage of anaesthetics. This acute phase is followed by a chronic, refractory epilepsy and cognitive deficit, that persist for the rest of the patient’s life. Still to this day no definite cause has been described. In this study we review the current finding in FIRES and describe a case of a 4-year-old patient with a dramatic course of the acute phase in FIRES and unusual presentation of the chronic phase, which is dominated by extrapyramidal symptoms such as dystonia. This case highlights that the clinical presentation of FIRES may differ from those frequently described in literature. Full article
(This article belongs to the Special Issue Epilepsy and Neurological Symptoms in Neurometabolic Diseases)
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