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Brain Sciences
Special Issues
Genetics of Neurological Disorders in Children
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Genetics of Neurological Disorders in Children

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

Deadline for manuscript submissions: closed (10 July 2021) | Viewed by 20170

Special Issue Editor

Dr. Gabriella Di Rosa

E-Mail Website
Guest Editor
Department of Human and Pediatric Pathology “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, 98122 Messina, Italy
Interests: prematurity and neurodevelopmental trajectories; epileptic encephalopathies; paroxysmal nonepileptic disorders in childhood; migraine; neurometabolic diseases; Rett and Rett-like syndrome
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to invite you to contribute to this Special Issue of Brain Sciences dedicated to the genetics of neurological disorders in children.

Neurological diseases in childhood often stem from genetic causes. Epileptic and developmental encephalopathies, paroxysmal nonepileptic disorders, malformations of the central nervous system, neurometabolic diseases, neuromuscular disorders, and many others make up the wide constellation of neurogenetic diseases in developing age. Fundamental advances have been reached throughout the last years, leading to a marked improvement in molecular and/or cytogenetic investigation approaches: from karyotype and linkage analyses, we recently gained new-generation techniques, such as exome- or genome-sequencing, that allowed us to identify disease-causing mutations in a high percentage of patients. This Special Issue aims to retrace the path of genetic approaches to neurological disorders in children, from complex diagnostics to the latest innovative technologies. We will be pleased to receive your valuable manuscripts in the form of reviews and articles.

Prof. Dr. Gabriella Di Rosa
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 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

  • Developmental and epileptic encephalopathies
  • Paroxysmal non-epileptic disorders
  • Neurometabolic disorders
  • Neuromuscular disorders
  • Genetics of cerebellar malformations

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Published Papers (4 papers)

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Research

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9 pages, 276 KiB  
Article
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
by Antonio Gennaro Nicotera, Gabriella Di Rosa, Laura Turriziani, Maria Cristina Costanzo, Emanuela Stracuzzi, Girolamo Aurelio Vitello, Rosanna Galati Rando, Antonino Musumeci, Mirella Vinci, Sebastiano Antonino Musumeci and Francesco Calì
Brain Sci. 2021, 11(10), 1293; https://doi.org/10.3390/brainsci11101293 - 29 Sep 2021
Cited by 5 | Viewed by 2685
Abstract
Antipsychotics (APDs) represent the main pharmacological strategy in the treatment of schizophrenia; however, their administration often may result in severe adverse effects, such as extrapyramidal symptoms. Typically, dystonic movements are considered the result of impaired function and/or abnormalities of dopaminergic neurotransmission/signaling in the [...] Read more.
Antipsychotics (APDs) represent the main pharmacological strategy in the treatment of schizophrenia; however, their administration often may result in severe adverse effects, such as extrapyramidal symptoms. Typically, dystonic movements are considered the result of impaired function and/or abnormalities of dopaminergic neurotransmission/signaling in the basal ganglia. The catechol O-methyltransferase (COMT) gene is located within the 22q11.2 region, and its product is an enzyme involved in transferring a methyl group from S-adenosylmethionine to catecholamines, including dopamine. Studies showed that COMT Val158Met polymorphism modifies enzymatic activity and, consequently, synaptic dopamine concentration in specific brain areas. We identified a patient with 22q11.2 deletion syndrome presenting with cervical and trunk dystonia after paliperidone administration, which persisted even after drug discontinuation. Given the patient’s genetic condition, we hypothesized that the dopaminergic dysfunction had been aggravated by COMT involvement, thus causing dystonia. In line with this hypothesis, we carried out a study on psychiatric patients in chronic treatment with APD to evaluate the distribution of the COMT Val158Met polymorphism and its role in the onset of adverse extrapyramidal symptoms. The study included four patients with dystonia after administration of APDs compared to 17 patients who never presented adverse drug reactions. Our data suggest that the Val/Val and Met/Met polymorphisms of the COMT gene are associated with a protective effect for the development of collateral extrapyramidal symptoms in patients treated with APDs, while the Val/Met genotype could be considered a risk factor for the development of dystonia after APDs administration. Full article
(This article belongs to the Special Issue Genetics of Neurological Disorders in Children)
11 pages, 3968 KiB  
Article
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
by Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden and Roberto Chimenzadd Show full author list remove Hide full author list
Brain Sci. 2021, 11(9), 1150; https://doi.org/10.3390/brainsci11091150 - 29 Aug 2021
Cited by 14 | Viewed by 3708
Abstract
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability [...] Read more.
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS. Full article
(This article belongs to the Special Issue Genetics of Neurological Disorders in Children)
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Review

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12 pages, 721 KiB  
Review
Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
by Giulia Spoto, Maria Concetta Saia, Greta Amore, Eloisa Gitto, Giuseppe Loddo, Greta Mainieri, Antonio Gennaro Nicotera and Gabriella Di Rosa
Brain Sci. 2021, 11(10), 1295; https://doi.org/10.3390/brainsci11101295 - 29 Sep 2021
Cited by 16 | Viewed by 5645
Abstract
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called ‘Neonatal Epilepsies’. To [...] Read more.
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called ‘Neonatal Epilepsies’. To date, three main groups of neonatal epilepsies are recognised during the neonatal period: benign familial neonatal epilepsy (BFNE), early myoclonic encephalopathy (EME) and ‘Ohtahara syndrome’ (OS). Recent advances showed the role of several genes in the pathogenesis of these conditions, such as KCNQ2, KCNQ3, ARX, STXBP1, SLC25A22, CDKL5, KCNT1, SCN2A and SCN8A. Herein, we reviewed the current knowledge regarding the pathogenic variants most frequently associated with neonatal seizures, which should be considered when approaching newborns affected by these disorders. In addition, we considered the new possible therapeutic strategies reported in these conditions. Full article
(This article belongs to the Special Issue Genetics of Neurological Disorders in Children)
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21 pages, 2474 KiB  
Review
The Genetics of Sleep Disorders in Children: A Narrative Review
by Greta Mainieri, Angelica Montini, Antonio Nicotera, Gabriella Di Rosa, Federica Provini and Giuseppe Loddo
Brain Sci. 2021, 11(10), 1259; https://doi.org/10.3390/brainsci11101259 - 23 Sep 2021
Cited by 15 | Viewed by 6147
Abstract
Sleep is a universal, highly preserved process, essential for human and animal life, whose complete functions are yet to be unravelled. Familial recurrence is acknowledged for some sleep disorders, but definite data are lacking for many of them. Genetic studies on sleep disorders [...] Read more.
Sleep is a universal, highly preserved process, essential for human and animal life, whose complete functions are yet to be unravelled. Familial recurrence is acknowledged for some sleep disorders, but definite data are lacking for many of them. Genetic studies on sleep disorders have progressed from twin and family studies to candidate gene approaches to culminate in genome-wide association studies (GWAS). Several works disclosed that sleep-wake characteristics, in addition to electroencephalographic (EEG) sleep patterns, have a certain degree of heritability. Notwithstanding, it is rare for sleep disorders to be attributed to single gene defects because of the complexity of the brain network/pathways involved. Besides, the advancing insights in epigenetic gene-environment interactions add further complexity to understanding the genetic control of sleep and its disorders. This narrative review explores the current genetic knowledge in sleep disorders in children, following the International Classification of Sleep Disorders—Third Edition (ICSD-3) categorisation. Full article
(This article belongs to the Special Issue Genetics of Neurological Disorders in Children)
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