Gene mutations in comorbidity of epilepsy and arrhythmia

Yu, Cheng; Deng, Xuejun; Xu, Da

doi:10.1007/s00415-022-11430-2

Cited by 9 publications

(6 citation statements)

References 201 publications

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“…By effectively managing seizures, AEDs can play a crucial role in mitigating the immediate effects of seizures on respiratory function. Pharmaceutical agents such as valproic acid, clobazam, and stiripentol have been employed in the treatment of distinct epileptic encephalopathies, such as Dravet syndrome, to diminish the occurrence of seizures and mitigate the concomitant respiratory difficulties [ 2 ]. Certain AEDs possess potential adverse effects that may impact respiratory function.…”

Section: Reviewmentioning

confidence: 99%

“…The respiratory challenges in these two conditions can vary significantly. In Dravet syndrome, respiratory abnormalities, such as hypoventilation and apneas, may be more pronounced during or after convulsive seizures, making them relatively easier to detect in a clinical setting [2]. However, in LGS, the respiratory issues may be less seizure-dependent and more chronic, with continuous irregular breathing patterns and a higher risk of SUDEP [3].…”

Section: Diverse Clinical Phenotypesmentioning

confidence: 99%

“…These disorders deviate from the typical course of epilepsy by featuring a dynamic interplay between epileptic activity and cognitive regression. Prominent examples within this category include Dravet syndrome, Lennox-Gastaut syndrome (LGS), and Ohtahara syndrome [ 2 ]. Dravet syndrome, formerly known as severe myoclonic epilepsy of infancy (SMEI), is one of the quintessential epileptic encephalopathies.…”

Section: Introductionmentioning

confidence: 99%

“…As the syndrome advances, patients experience a gradual regression of cognitive and motor functions, leading to profound intellectual disability. Dravet syndrome is primarily associated with mutations in the SCN1A gene, encoding the voltage-gated sodium channel Nav1.1, highlighting the genetic underpinnings of epileptic encephalopathies [ 2 ][ 3 ]. LGS represents another archetypal epileptic encephalopathy characterized by multiple seizure types, including tonic, atonic, and atypical absence seizures.…”

Section: Introductionmentioning

confidence: 99%

“…Seizures can directly impact respiration, leading to alterations in breathing patterns, apneas, or oxygen desaturation [ 4 ]. Conversely, respiratory dysfunction, such as chronic hypoventilation, can influence seizure susceptibility and exacerbate the severity of seizures [ 2 ]. Understanding this dynamic interplay is critical for optimizing patient care.…”

Section: Introductionmentioning

confidence: 99%

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Respiratory Dysfunction in Epileptic Encephalopathies: Insights and Challenges

Khan,

Dev,

Kumari

et al. 2023

Cureus

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Epileptic encephalopathies constitute a group of severe epileptic disorders characterized by intractable seizures and cognitive regression. Beyond the hallmark neurological manifestations, these disorders frequently exhibit associated respiratory dysfunction, which is increasingly recognized as a critical aspect of their pathophysiology. Respiratory abnormalities in epileptic encephalopathies encompass a spectrum of manifestations, ranging from subtle alterations in breathing patterns to life-threatening events such as apneas and hypoventilation. These respiratory disturbances often occur during seizures, the interictal period, or even persist chronically, leading to significant morbidity and mortality. We explore the varied clinical presentations and their implications on patient outcomes, emphasizing the need for heightened awareness among clinicians. This review unravels the intricate mechanisms linking epilepsy and respiratory dysfunction. GABAergic and glutamatergic imbalances, alterations in central respiratory centers, and abnormal autonomic control are among the key factors contributing to respiratory disturbances in these patients. We elucidate the neurobiological intricacies that underlie these processes and their relevance to therapeutic interventions. Accurate diagnosis of respiratory dysfunction in epileptic encephalopathies is often hindered by its diverse clinical phenotypes and the absence of routine screening protocols. We scrutinize the diagnostic hurdles, highlighting the necessity of comprehensive respiratory assessments in managing these patients. Timely recognition of respiratory issues may guide treatment decisions and mitigate complications. Management of respiratory dysfunction in epileptic encephalopathies is complex and necessitates a multidisciplinary approach. We explore various therapeutic modalities, including antiepileptic drugs (AEDs), ventilatory support, and novel interventions like neuromodulation techniques. The review emphasizes the individualized nature of treatment strategies tailored to each patient's specific needs. In conclusion, this narrative review offers a comprehensive overview of respiratory dysfunction in epileptic encephalopathies, shedding light on its clinical importance, underlying mechanisms, diagnostic challenges, and therapeutic considerations. By addressing these insights and challenges, we hope to inspire further research and innovation to enhance the care and outcomes of patients with epileptic encephalopathies.

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Section: Reviewmentioning

confidence: 99%

Section: Diverse Clinical Phenotypesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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