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Sodium channelopathies are genetic disorders caused by mutations in genes, including sodium voltage-gated channel alpha subunit 1 ( SCN1A) , that lead to several epilepsy syndromes. Traditional treatments with sodium channel blockers often have limited effectiveness and side effects. Dravet syndrome (DS), a severe epilepsy starting in infancy, presents significant treatment challenges. Perampanel (PER), a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, has shown promise for DS, reducing seizure frequency and improving quality of life (QoL). The limited availability of randomized controlled trials on PER among DS is challenging, but broader studies on refractory epilepsies offer insights. Real-world studies support PER's efficacy, underscoring its potential for managing refractory seizures in DS. Studies showed long-term effectiveness in reducing seizure frequency and enhancing QoL. While PER has minimal impact on cognitive development, it significantly improves seizure control. Numerous studies confirm the use of PER as an effective adjunctive treatment for DS; however, it is crucial to observe the safety profile, especially for pediatric sodium channelopathy patients. Common side effects include dizziness, drowsiness, and irritability, necessitating careful management. Long-term safety is generally favorable, but monitoring for behavioral and mood changes is essential. Additionally, the response to PER in DS varies widely, complicating its use. The limited clinical data and the need for careful dosage monitoring, especially in children, present significant challenges. Side effects, potential drug interactions, and high costs further complicate treatment. Despite increasing attention to its cost-effectiveness, accessibility remains limited in some regions, posing significant barriers for many families. In this paper, we review the role of PER in treating pediatric patients with DS, emphasizing clinical evidence and practical considerations., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Alyazidi et al.)

Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D). It can cause delayed speech, behavior problems, and features of autism spectrum disorder. Sanfilippo syndrome is of a higher prevalence within consanguineous families that carry its gene alteration. If both parents have a nonfunctional copy of a gene linked to this condition, their children will have a 25% (1 in 4) chance of developing the disease. In Saudi Arabia, the incidence rate is estimated at 2 per 100,000 live births. Recent research focused on promising treatment approaches, such as gene therapy, modified enzyme replacement therapy, and stem cells. These approaches work by exogenous administration of the proper version of the mutant enzyme (enzyme replacement therapy), cleaning the defective enzyme in individuals with glycolipid storage disorders (substrate reduction therapy), or using a pharmacological chaperone to target improperly folded proteins. However, there is currently no approved curative medication for Sanfilippo syndrome that can effectively halt or reverse the disorder., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Alyazidi et al.)

Introduction Child abuse and neglect (CAN) affects many countries, including Saudi Arabia (SA). CAN in SA is more commonly detected in hospitals. Therefore, healthcare professionals must identify and report the cases. This study aims to assess knowledge and perceptions toward CAN among training physicians. Methodology A cross-sectional survey was conducted through a self-administrated structured questionnaire and involved 123 residents and fellows who deal with children in Jeddah, SA. The participants were recruited using convenient sampling methods. Descriptive statistics, t-test, and Chi-square test were used for statistical analysis. Results We found that approximately 78% would report their findings to the legal authority, document them, and assess their consistency with parents and the child's explanation. However, only 41.5% of the participants would report CAN to the proper authority. Most participants believed that CAN should be redefined according to Saudi culture and religious standards. In contrast, 68.9% of the participants believed that CAN cases are under-reported in SA. The main barrier to not reporting is the fear of consequences (63.4%). About 77% of the participants agreed to the need for further training. Identifying the CAN indicators was higher among those who handled a CAN case previously (median = 66.67, p = 0.023). Conclusions In conclusion, the study showed that appropriate undergraduate and postgraduate curriculum training should be developed to strengthen future healthcare practitioners in dealing with CAN cases to protect children's welfare., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Alyoubi et al.)

Giant axonal neuropathy (GAN) is a rare, inherited neurodegenerative disease that affects both the central and peripheral nervous systems. It is mostly characterized by a progressive loss of motor and sensory function, which can begin in early childhood. GAN is thought to be caused by a mutation in the GAN gene on chromosome 16q24.1. We report a seven-year-old Saudi male child with GAN who was diagnosed using whole-exome sequencing. The child presented with a history of progressive weakness and muscle wasting in the arms and legs as well as difficulty walking. The sequencing identified a mutation in the GAN gene (NM_022041.3: c.1456G>A). Electrodiagnostic studies showed evidence of diffuse axonal motor and sensory polyneuropathy involving cranial nerves. This case report adds to the growing evidence that whole-exome sequencing can be a useful tool for diagnosing rare inherited neuromuscular disorders. It also highlights the importance of early diagnosis and intervention for this condition., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Bamaga et al.)

Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of elevated ICP. Seldom, patients can present with an encephalocele. We reported a case of a 31-year-old female who initially presented to our center with complaints of headaches, foreign body sensation in the nasal cavity, and decreased ability to smell. Brain computed tomography (CT) scan showed a large intranasal encephalocele and defect along the frontal skull base, through which brain tissue was herniating. The patient was successfully treated surgically by implantation of a lumboperitoneal shunt to manage the high ICP caused by her PPTS. In combination, reconstruction of the frontal skull base defect for the encephalocele was performed. Currently, the patient is doing well despite some on-and-off headaches., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hamad et al.)

Background Neurological diseases entail a broad spectrum of disorders. Among such ailments are epilepsy and neuromuscular disorders which impose a substantial burden on children and their families. Ensuring adequate access to outpatient services is crucial for these children regardless of the subclinical specialty, and clinicians can better comprehend the caregivers' perspectives by being aware of their backgrounds which can be aided using epidemiological studies. Methods In June 2023, a cross-sectional study was carried out in pediatric neurology clinics at a tertiary care center. The study included all families with a child or more (14 years and younger) diagnosed with neurological disorders. The study adopted a three-section survey delivered to participants recruited using a non-probability sampling technique to achieve a 95% confidence interval with a 5% margin of error. Results A total of 821 families participated in this study. The mean age of respondents was 40.46±8.72 years. Of the affected children, there were 600 (73.08%) children following up with the general neurology and epilepsy clinics, 164 (19.98%) were following up with the neuromuscular disorders clinics, and 57 (6.94%) were following up with the neurogenetic clinics. Familial status had no association with the type of clinic the patient was following up with p =0.0054. Single respondents had a significantly higher prevalence of children with epilepsy ( p <0.0001). Parents with a high school level of education or lower had a significantly greater prevalence of epilepsy clinic follow-ups ( p =0.0048). Conclusion The findings of this study contribute to the assessment of prevalent neurological disorders in children and shed light on the family dynamics surrounding these conditions. Through statistical analysis, the study establishes connections between certain demographic and clinical traits and specific neurological disorders among pediatric patients and their families. The study emphasizes the importance of socio-economic and socio-clinical support in promoting child health in such cases. Similar research would offer a more accurate portrayal of the challenges faced by families in these circumstances., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Bamaga et al.)

Background and objective Ramadan is the Muslim's holiest month; it is a time when believers engage in special practices that include fasting from dawn till dusk and making cultural and dietary modifications in their everyday lives. The impact of Ramadan on human activity, sleeping patterns, and circadian rhythms of hormones have been addressed in the literature. Fasting, which constitutes the main pillar of practices during Ramadan and lasts from sunrise to sunset, can significantly affect common health conditions, leading many to seek medical care in the Emergency Department (ED). Hence, it is important to understand the pattern of ED visits and understand the impact caused by fasting during this holy month in a Muslim-majority country. In light of this, this study aimed to gather new insights into the pattern of ED visits during Ramadan at a busy tertiary care center in the period from 2019 to 2021. Methods This study was conducted by reviewing the hospital health information system to gather relevant information in May 2022. Data of patients who visited the ED during Ramadan were collected, as well as during a month prior to and after Ramadan for the purpose of comparison. Sociodemographic characteristics and clinical profiles were collected for analysis.  Results The total number of ED visits in the three months of Ramadan during the study period (three years) was 33,142, all of which were included in our analysis. Sociodemographic data were analyzed for patients who visited the ED during the month of Ramadan and the two lunar months that precede and succeed Ramadan (Shaban and Shawal). Fever was the most common complaint (16.5%), followed by abdominal pain (14%). When analyzing the findings based on patient age groups, fever was found to be the most prevalent complaint in both adults (15.6%) and pediatric patients (34.4%). Of the total ED patient visits, 7,527 patients were admitted for further care, and 197 patients deceased. Conclusion Our study findings illustrate the change in ED visit patterns during the month of Ramadan in a Muslim-majority country. Also, the type of complaints was affected significantly due to the ongoing coronavirus disease 2019 (COVID-19) pandemic during the study period. The outcomes in patients reflected substantial progress and outcomes in the ED. These findings highlight that analyzing ED data can help provide accurate information that can be used to help modify/adjust the quality of services provided in the ED. However, these modifications may affect all hospital facilities, not just the ED., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Khojah et al.)

Background Approximately 50 million people globally suffer from epilepsy. The prevalence of epilepsy in Saudi Arabia has been reported at 6.5 per 1,000 persons, affecting nearly 1% of the entire population. However, limited data is available in the country regarding the sociodemographic factors affecting epilepsy and its associated postictal symptoms, which may lead to stigmatization and negatively impact patients. Methods A cross-sectional study was conducted at King Abdulaziz University Hospital (KAUH) in a survey format. Ethical approval was obtained from the Research Ethics Committee of the Faculty of Medicine at King Abdulaziz University. The study population included patients with epilepsy who visited King Abdulaziz University Hospital's outpatient neurology clinics from October 2021 to March 2022. Results The study participants' average age at the time of the first seizure was 16.5 years, with patients experiencing seizures as early as within the first year of life and as late as 70 years of age. Patients who had had their first seizure during the first year of life did not have any schooling (p<0.0001) and had learning difficulties (p<0.00001). Focal onset impaired awareness seizures were significantly associated with motor weakness (p=0.023) and mood alterations (p=0.014), while postictal fear, anxiety or panic, and sleep disruption were statistically significant for focal onset aware seizures (p=0.015 and p=0.050). Conclusion This study highlights the sociodemographic differences between patients in Saudi Arabia and in other areas. It may also point to novel findings regarding the postictal symptoms associated with the various seizure types., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alyoubi et al.)

Background Seizures constitute a serious public health concern, especially in pediatric patients. They are among the most prevalent medical issues affecting children. Magnetic resonance imaging (MRI) is a widely used imaging modality to evaluate, assess, and follow up on brain abnormalities. Objectives The purpose of the study is to explore the clinical findings of pediatric patients with seizures and their associated findings on MRI examinations. Material and methods A retrospective cohort study was conducted between 2021 and 2022 at King Abdulaziz University Hospital (KAUH). A total of 171 pediatric patients (ages 1-14 years old) who had seizures and underwent brain MRI examinations were included in the study. The mean age of the group was two years. Results Focal seizures represented the majority of seizure types in 62 (60.2%) patients compared to 42 patients who presented with generalized seizures and 67 patients who presented with normal findings based on magnetic resonance imaging (MRI) analysis. The most common finding in imaging was the presence of developmental anomalies, which were found in 31 (18.5%) patients. This was followed by hypoxic-ischemic injury in 12 patients, vascular abnormalities in 10 patients, inherited metabolic disorders in nine patients, and infection-related findings in six patients. Conclusion MRI has an invaluable role in managing pediatric patients with seizures. Accurate diagnosis of patients is an essential step for delivering proper care to patients. MRI is considered the main imaging modality to establish a correct diagnosis and thereby improve prognosis, and electroencephalogram (EEG) should be taken into account during standard neurodiagnostic testing., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alyoubi et al.)

Introduction The social acceptance of patients with epilepsy is largely determined by society's opinion of epilepsy; therefore, individuals with epilepsy could face prejudice and stigma as a result of negative impressions. Religious beliefs and mystical notions have been shown to influence attitudes toward epilepsy. Health fatalism could also be detrimental to society's and caregivers' approach toward such patients. In extreme settings, this could hinder them from obtaining an adequate treatment process. Methods A cross-sectional exploratory study was conducted from February 2022 to May 2022 in Saudi Arabia, Spain, Scotland, and Italy using an online questionnaire consisting of 33 questions concerning the Health Fatalism Scale (HFS), the Epilepsy Knowledge Scale (EKS), and the Epilepsy Attitude Scale (EAS). Results A total of 735 health science students (HSS) participated in the present study. The majority of participants were females (64.1%) while male participants represented 34.6% of the study. Health science students currently studying in Saudi Arabia represented the majority of participants with a percentage of 58.5%. Among the four countries, students in Saudi Arabia presented with the highest knowledge mean score. Students in Spain had the highest mean attitude score. Muslim students had the highest mean fatalism scores followed by Christian students. Conclusion In general, a high level of knowledge was observed among the participants, most notably, among Saudis who presented with the highest level of knowledge across the four countries. Regarding attitude, Spanish students presented the best attitude towards patients with epilepsy. Low fatalism scores were commonly observed across all countries regardless of their different demographic characteristics. Fatalism perception should be further detailed to ensure optimal services are delivered without prejudgment by future healthcare workers., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Alyazidi et al.)