Seizure

This study aimed to determine the genotype and phenotype correlations for the SMARCA2 gene in epilepsy patients.

Epilepsy is a significant cause of mortality and disability worldwide. It affects more than 50 million people globally and is the second leading neurological cause of potential life years lost after stroke [1]. People with epilepsy (PWE) have an increased risk of cardiac arrythmias, which may be influenced by different classes of anti-seizure medications [2,3]. There is increasing interest in the brain-heart axis, especially pertaining the contribution of cardiac dysfunction in the pathogenesis of sudden unexpected death in epilepsy (SUDEP) ...

The synapsin 1 gene (SYN1), located on chromosome X (Xp11.23), encodes for a neuronal phosphoprotein, implicated in different aspects of presynaptic physiology [1]. The SYN1 gene is composed of 13 exons, encoding for two protein isoforms (of 669 and 705 amino acids), resulting from alternative splicing [2].

Lennox-Gastaut syndrome (LGS) is a developmental epileptic encephalopathy (DEE) that has multiple causes and an incidence of approximately two cases per 100 000 population [1]. The disorder is characterized by several seizure types, severe cognitive impairment, and an specific electroencephalogram (EEG) pattern showing a slow spike- wave complexes (<2.5 Hz) and generalized paroxysmal fast activity (10Hz) during sleep [2]. Seizures usually begin to occur before the age of 8 years and persist into adulthood in more than 90% of patients ...

Cenobamate is an antiseizure medication (ASM) approved by the FDA in 2019 for focal seizures. For patients with refractory focal epilepsy, randomized control clinical trials have demonstrated that cenobamate is effective and well-tolerated.[1] However, there are currently minimal data regarding cenobamate use in pregnancy, apart from animal studies suggesting possible teratogenicity.[2]

The authors regret that they need to correct the following errors in their published paper

Primary mitochondrial diseases are a diverse group of genetic disorders characterized by impaired energy production [1]. Mitochondrial disorders caused by pathogenic variants in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) are among the most prevalent inborn errors of metabolism, with an estimated occurrence of more than 1 in 4.300 individuals [2].

Epilepsy is a chronic neurological disease that affects more than 70 million people worldwide1, 2. Temporal lobe epilepsy (TLE) is a common seizure type of epilepsy, and a number of studies have reported that TLE is related to mood disorders3. Anxiety is one of the most common comorbidities of epilepsy, and the prevalence of anxiety in adult patients with epilepsy is about 11.0%–39.4%4. A survey found that the suicide rate of patients with epilepsy and anxiety was 11.4 times that ...

It has been well established that children with epilepsy have an increased risk for cognitive, behavioural, and emotional difficulties[1,2,3] but difficulties with motor coordination and in particular features of Developmental Coordination Disorder (DCD) have been less well described[4]. Sleep difficulties are also common in children with epilepsy but there is limited research from studies where both self-reported and caregiver reports have been employed[5]. Understanding the prevalence and associated factors with DCD and child-reported sleep is important to provide support and ...

Navigating healthcare systems and accessing medical treatments is a crucial part of living with a chronic health condition, often vital for maintaining wellbeing and functional abilities [1]. Patients’ experiences of such encounters influence their views of healthcare systems, emotional wellbeing and ability to engage and sustain therapeutic relationships [2,3].