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Special Issue "Epilepsy and Comorbidities in Children: Pathogenesis, Diagnosis and Therapies"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 June 2021.

Special Issue Editors

Prof. Dr. Giangennaro Coppola
E-Mail Website
Guest Editor
Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Salerno, Italy
Interests: pediatric epilepsy; neurodevelopmental disorders; autism; ketogenic diet
Special Issues and Collections in MDPI journals
Dr. Francesca Felicia Operto
E-Mail Website
Co-Guest Editor
Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano SA, Italy
Interests: pediatric epilepsy; neurodevelopmental disorders; autism; ketogenic diet
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a collection of selected papers from “Epilepsy and Comorbidities”, which is tentatively scheduled for 18 September 2020 in Salerno, Italy. Given the pandemic situation, other scholars in related fields without the condition of attending this conference are also welcomed to contribute to this Special Issue.

The neuropsychiatric comorbidities frequently associated with the pediatric epilepsies can complicate the basic clinical picture and, at times, constitute a real therapeutic challenge. In terms of comorbidity, it must first be remembered that the associated disorders may occur more or less early in conjunction with epilepsy, may pre-exist with respect to the onset of epilepsy or even represent disorders that persist beyond the resolution of epilepsy.

The causes can be related to multiple factors including the basic condition, the type of epilepsy or epileptic syndrome, the frequency of seizures and/or EEG anomalies, the effect and the number and type of the antiseizure medications, up to the relational and environmental features related to the epileptic disorder. Neurological and psychiatric/neuropsychological comorbidities can therefore aggravate and complicate the child's epileptic disorder themselves. The topic is always intriguing and may stir interest in the reader; it is for this reason that the aim of this Special Issue is to shed light on pathological mechanisms, novel therapeutic approaches and diagnosis in an updated and current way and in particular the issues related to comorbidities such as ADHD disorder, mood disorders (anxiety and depression), psychotic disorders, psychogenic non-epileptic seizures, cognitive functions and learning disorders and the role of school, behavior disorders such as the oppositive-defiant disorder, the conduct disorders, the disruptive behavior and other behavioral problems, the autism spectrum disorders, the parental stress and quality of life, the quality of sleep in the epileptic child, the migraine in the epileptic child, music therapy and epilepsy, ketogenic diet and new hypothesis of basic mechanisms of action.

The individual topics should also consider the neurobiological aspects and the possible molecular links underlying the epileptic disorder and their respective comorbidities, without neglecting the therapeutic implications. Original papers and reviews will be accepted.

This special issue is focused more on molecular research. Papers focus on clinical research or diagnostics may choose our joint special issue in Diagnostics (ISSN 2075-4418, IF 3.110).

Prof. Dr. Giangennaro Coppola
Guest Editors
Dr. Francesca Felicia Operto
Co-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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • comorbidity
  • epilepsy
  • children and adolescents
  • neuropsychiatry
  • molecular mechanisms

Published Papers (1 paper)

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Research

Open AccessArticle
Age-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Int. J. Mol. Sci. 2020, 21(21), 8142; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21218142 - 30 Oct 2020
Cited by 5 | Viewed by 520
Abstract
The loss-of-function S284L-mutant α4 subunit of the nicotinic acetylcholine receptor (nAChR) is considered to contribute to the pathomechanism of autosomal dominant sleep-related hypermotor epilepsy (ADSHE); however, the age-dependent and sleep-related pathomechanisms of ADSHE remain to be clarified. To explore the age-dependent and sleep-induced [...] Read more.
The loss-of-function S284L-mutant α4 subunit of the nicotinic acetylcholine receptor (nAChR) is considered to contribute to the pathomechanism of autosomal dominant sleep-related hypermotor epilepsy (ADSHE); however, the age-dependent and sleep-related pathomechanisms of ADSHE remain to be clarified. To explore the age-dependent and sleep-induced pathomechanism of ADSHE, the present study determined the glutamatergic transmission abnormalities associated with α4β2-nAChR and the astroglial hemichannel in the hyperdirect and corticostriatal pathways of ADSHE model transgenic rats (S286L-TG) bearing the rat S286L-mutant Chrna4 gene corresponding to the human S284L-mutant CHRNA4 gene of ADSHE, using multiprobe microdialysis and capillary immunoblotting analyses. This study could not detect glutamatergic transmission in the corticostriatal pathway from the orbitofrontal cortex (OFC) to the striatum. Before ADSHE onset (four weeks of age), functional abnormalities of glutamatergic transmission compared to the wild-type in the cortical hyperdirect pathway, from OFC to the subthalamic nucleus (STN) in S286L-TG, could not be detected. Conversely, after ADSHE onset (eight weeks of age), glutamatergic transmission in the hyperdirect pathway of S286L-TG was enhanced compared to the wild-type. Notably, enhanced glutamatergic transmission of S286L-TG was revealed by hemichannel activation in the OFC. Expression of connexin43 (Cx43) in the OFC of S286L-TG was upregulated after ADSHE onset but was almost equal to the wild-type prior to ADSHE onset. Differences in the expression of phosphorylated protein kinase B (pAkt) before ADSHE onset between the wild-type and S286L-TG were not observed; however, after ADSHE onset, pAkt was upregulated in S286L-TG. Conversely, the expression of phosphorylated extracellular signal-regulated kinase (pErk) was already upregulated before ADSHE onset compared to the wild-type. Both before and after ADSHE onset, subchronic nicotine administration decreased and did not affect the both expression of Cx43 and pErk of respective wild-type and S286L-TG, whereas the pAkt expression of both the wild-type and S286L-TG was increased by nicotine. Cx43 expression in the plasma membrane of the primary cultured astrocytes of the wild-type was increased by elevation of the extracellular K+ level (higher than 10 mM), and the increase in Cx43 expression in the plasma membrane required pErk functions. These observations indicate that a combination of functional abnormalities, GABAergic disinhibition, and upregulated pErk induced by the loss-of-function S286L-mutant α4β2-nAChR contribute to the age-dependent and sleep-induced pathomechanism of ADSHE via the upregulation/hyperactivation of the Cx43 hemichannels. Full article
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