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Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review

Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is ess...

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Detalles Bibliográficos
Autor principal: Almohammal, Mohammad N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505738/
https://www.ncbi.nlm.nih.gov/pubmed/37727158
http://dx.doi.org/10.7759/cureus.43728
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author Almohammal, Mohammad N
author_facet Almohammal, Mohammad N
author_sort Almohammal, Mohammad N
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description Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is essential to avoid any brain damage. Therefore, this review aims to focus on early diagnostic criteria. Since it might be difficult for doctors to interpret the presenting symptoms of channelopathies, a thorough diagnostic examination that follows a methodical step-by-step procedure is essential. Skeletal muscle fiber and neuron excitability depend on voltage-gated sodium channels. It is now known that mutations in voltage-gated sodium channel genes can cause a growing variety of fatal or debilitating pediatric neurological diseases. Episodic paralysis, myotonia, newborn hypotonia, respiratory impairment, laryngospasm/stridor, congenital myasthenia, and myopathy are examples of muscle phenotypes. There may be a connection between sodium channel malfunction and abrupt infant death, according to recent findings. Numerous epilepsy syndromes and complex encephalopathies are among the manifestations of different channelopathies that are becoming more widely recognized.
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spelling pubmed-105057382023-09-19 Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review Almohammal, Mohammad N Cureus Pediatrics Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is essential to avoid any brain damage. Therefore, this review aims to focus on early diagnostic criteria. Since it might be difficult for doctors to interpret the presenting symptoms of channelopathies, a thorough diagnostic examination that follows a methodical step-by-step procedure is essential. Skeletal muscle fiber and neuron excitability depend on voltage-gated sodium channels. It is now known that mutations in voltage-gated sodium channel genes can cause a growing variety of fatal or debilitating pediatric neurological diseases. Episodic paralysis, myotonia, newborn hypotonia, respiratory impairment, laryngospasm/stridor, congenital myasthenia, and myopathy are examples of muscle phenotypes. There may be a connection between sodium channel malfunction and abrupt infant death, according to recent findings. Numerous epilepsy syndromes and complex encephalopathies are among the manifestations of different channelopathies that are becoming more widely recognized. Cureus 2023-08-18 /pmc/articles/PMC10505738/ /pubmed/37727158 http://dx.doi.org/10.7759/cureus.43728 Text en Copyright © 2023, Almohammal et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Almohammal, Mohammad N
Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title_full Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title_fullStr Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title_full_unstemmed Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title_short Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review
title_sort epileptic channelopathies and neuromuscular disorders in newborns: a narrative review
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505738/
https://www.ncbi.nlm.nih.gov/pubmed/37727158
http://dx.doi.org/10.7759/cureus.43728
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