Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review

被引:0
|
作者
Almohammal, Mohammad N. [1 ]
机构
[1] Minist Hlth, Dept Pediat, Bisha, Saudi Arabia
关键词
ion channels; newborns; neuromuscular disorders; epilepsy; channelopathies; KCNQ2; ENCEPHALOPATHY; PHENOTYPE; CHILDREN; SCN1A;
D O I
10.7759/cureus.43728
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页数:7
相关论文
共 50 条
  • [31] Anesthesia and Perioperative Management for Surgical Correction of Neuromuscular Scoliosis in Children: A Narrative Review
    Hudec, Jan
    Prokopova, Tereza
    Kosinova, Martina
    Gal, Roman
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (11)
  • [32] Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction
    Piera Nappi
    Francesco Miceli
    Maria Virginia Soldovieri
    Paolo Ambrosino
    Vincenzo Barrese
    Maurizio Taglialatela
    Pflügers Archiv - European Journal of Physiology, 2020, 472 : 881 - 898
  • [33] A Review of Catecholamine Associated Cardiomyopathies and Channelopathies
    Sethi, Pooja
    Peiris, Craig D.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (02)
  • [34] Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction
    Nappi, Piera
    Miceli, Francesco
    Soldovieri, Maria Virginia
    Ambrosino, Paolo
    Barrese, Vincenzo
    Taglialatela, Maurizio
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2020, 472 (07): : 881 - 898
  • [35] Non-epileptic disorders in infancy and adolescence
    Antoniuk, Sergio A.
    MEDICINA-BUENOS AIRES, 2013, 73 : 71 - 76
  • [36] Non-epileptic paroxysmal sleep disorders
    Malagon-Valdez, Jorge
    REVISTA DE NEUROLOGIA, 2013, 57 : S115 - S123
  • [37] Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist?
    Driessen, Jacques J.
    Current Opinion in Anesthesiology, 2008, 21 (03) : 350 - 355
  • [38] Inspiratory muscle training in children with neuromuscular disorders
    Human, Anri
    Corten, Lieselotte
    Lozano-Ray, Eleonora
    Morrow, Brenda M.
    SOUTH AFRICAN JOURNAL OF PHYSIOTHERAPY, 2024, 80 (01)
  • [39] Using gene panels in the diagnosis of neuromuscular disorders: A mini-review
    Ng, Kay W. P.
    Chin, Hui-Lin
    Chin, Amanda X. Y.
    Goh, Denise Li-Meng
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [40] A Review of Current and Prospective Treatments for Channelopathies, with a Focus on Gene and Protein Therapy
    Sakla, Monica
    Breitinger, Ulrike
    Breitinger, Hans-Georg
    Mansour, Samar
    Tammam, Salma Nabil
    CURRENT PHARMACEUTICAL DESIGN, 2023, 29 (17) : 1341 - 1360