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Neonatal Seizures: An Overview of Genetic Causes and Treatment Options

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 Epileps...

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Autores principales: Spoto, Giulia, Saia, Maria Concetta, Amore, Greta, Gitto, Eloisa, Loddo, Giuseppe, Mainieri, Greta, Nicotera, Antonio Gennaro, Di Rosa, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534058/
https://www.ncbi.nlm.nih.gov/pubmed/34679360
http://dx.doi.org/10.3390/brainsci11101295
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author Spoto, Giulia
Saia, Maria Concetta
Amore, Greta
Gitto, Eloisa
Loddo, Giuseppe
Mainieri, Greta
Nicotera, Antonio Gennaro
Di Rosa, Gabriella
author_facet Spoto, Giulia
Saia, Maria Concetta
Amore, Greta
Gitto, Eloisa
Loddo, Giuseppe
Mainieri, Greta
Nicotera, Antonio Gennaro
Di Rosa, Gabriella
author_sort Spoto, Giulia
collection PubMed
description 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.
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spelling pubmed-85340582021-10-23 Neonatal Seizures: An Overview of Genetic Causes and Treatment Options Spoto, Giulia Saia, Maria Concetta Amore, Greta Gitto, Eloisa Loddo, Giuseppe Mainieri, Greta Nicotera, Antonio Gennaro Di Rosa, Gabriella Brain Sci Review 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. MDPI 2021-09-29 /pmc/articles/PMC8534058/ /pubmed/34679360 http://dx.doi.org/10.3390/brainsci11101295 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Spoto, Giulia
Saia, Maria Concetta
Amore, Greta
Gitto, Eloisa
Loddo, Giuseppe
Mainieri, Greta
Nicotera, Antonio Gennaro
Di Rosa, Gabriella
Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title_full Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title_fullStr Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title_full_unstemmed Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title_short Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
title_sort neonatal seizures: an overview of genetic causes and treatment options
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534058/
https://www.ncbi.nlm.nih.gov/pubmed/34679360
http://dx.doi.org/10.3390/brainsci11101295
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