A child with febrile and atypical absence seizures caused by a NLGN2 variant

Excitatory and inhibitory (E/I) network dysregulation significantly contributes to the pathogenesis of epilepsy. Neuroligins are postsynaptic cell adhesion molecules that play important roles in maintaining E/I synaptic signaling. The NLGN2 gene, located on 17p13.1, encodes a cell adhesion molecule that is expressed only in the postsynaptic membranes of inhibitory synapses, with high expression in the brain. While NLGN2 variants have been linked to schizophrenia, autism, and developmental delay [1], there are no reports of abnormal NLGN2 variants in patients with ...

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Outcome after Conservative or Surgical Treatment for New-Onset Epilepsy in Children with Cerebral Cavernous Malformation

Up to one-fourth of all cerebral cavernous malformations (CCM) affect the pediatric population [1–3]. Such lesions are a major cause of spontaneous intracerebral hemorrhage and may result in headaches, seizures, or focal neurological deficits [4]. A substantial number of lesions have a benign clinical course. However, some children suffer from CCM-related epileptic seizures (CRE), which are the most common trait of CCM disease. Pediatric CRE can lead to high morbidity, with particularly dreadful consequences in children and their development, given ...

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Improvement in Health Perception but not Quality of Life with an Antiseizure Medication Intervention in People with Epilepsy in Guinea: A Cohort Study

Epilepsy is one of the world’s most prevalent neurological diseases, affecting 50 million people globally [1]. Epilepsy significantly impairs patients’ quality of life (QOL). Previous studies of the QOL of patients with epilepsy (PWE) have focused primarily on higher-income countries; one systematic review found only 25 of 86 studies on QOLIE characterized populations outside of Europe or North America [1]. Despite this focus in the literature on higher income countries, approximately 80% of PWE reside in low and middle income ...

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Focus disconnection of the SEEG-identified epileptic network by radiofrequency thermal coagulation

Coagulating much of the epileptogenic lesion (EL) is a favorable prognostic factor for radiofrequency thermocoagulation (RFTC) for focal epilepsy [1]. However, trajectory limitations exist due to the risk of brain tissue and vascular injury around coagulated lesions. It is sometimes challenging to coagulate the entire focus when the EL is large and/or extends over the eloquent area. We propose an RFTC focal disconnection technique that minimizes the number of lesions and trajectories through stereoelectroencephalography (SEEG) monitoring and cortical stimulation mapping ...

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Physical exercise for children and adolescents with epilepsy: what have we learned?

A growing number of studies has demonstrated the beneficial effect of regular exercise in individuals with epilepsy, including reduction in seizure frequency and severity, as well as better health and psychosocial benefits [1–3]. To date, clinical and experimental investigations have shown the mechanisms of these positive effects. A previous review highlights the impact of physical activity on epilepsy in both human and animal studies [4]. However, there is no extensive literature demonstrating the impact of physical exercise or sport activities ...

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A case-control evaluation of Spasm control and Tolerability of the Modified Atkins diet versus classic ketogenic diet in Chinese Children with infantile epileptic spasms syndrome

Infantile epileptic spasms syndrome, as an age- specific epileptic encephalopathy, is characterized by clustering spasms, electrographic hypsarrhythmia, and frequent developmental regression [1]. However, there are limited available therapies that have proven to be beneficial for this medical condition. The proposed first-line treatment options are adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin, while any other treatments are less effective or lack proper evidence for their use [1–3].

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Efficacy and safety of perampanel monotherapy in patients with focal-onset seizures:a real-world experience in eastern China

Epilepsy is one of the most common neurological diseases which affects approximately 70 million people worldwide each year. So far, the anti-seizure medications (ASMs) are still the first choice for epilepsy. In the last few years, more and more epileptologists chose newer ASMs such as perampanel (PER) monotherapy for prescription in patients with focal-onset seizure.

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