Health related quality of life in a Saudi population of patients with epilepsy.

Objectives: To assess the quality of life for epilepsy patients in Saudi Arabia. Epilepsy, one of the most prevalent chronic neurological conditions in the world, frequently results in a low quality of life.

Methods: This cross-sectional study analyzed data between September 2020 and September 2021 from 102 adult patients with epilepsy in outpatient clinics department of Epilepsy Program at King Fahad Medical City compared it to 108 healthy controls during the same study period.

Sleep quality, daytime sleepiness, and insomnia in patient with epilepsy: .

Objectives: To measure the burden of insomnia and daytime sleepiness (DTS) and their effects on sleep quality, and the risk factors of poor quality of sleep.

Methods: We conducted a cross-sectional study of 218 epilepsy patients. We administered well-validated and previously translated questionnaires to assess sleep quality, insomnia, and DTS using the Pittsburgh Sleep Quality Index, Insomnia Severity Index, and Epworth Sleepiness Scale, respectively.

-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review.

Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported in patients with gene mutation.

Seizure-related injuries in people with epilepsy: A cohort study from Saudi Arabia.

Objectives: Patients with epilepsy have a high risk of accidents and injuries, resulting in minimized physical activity and social withdrawal. Therefore, we surveyed the prevalence and the types of injuries that patients with epilepsy may endure, and the factors that may increase the risk of injuries.

Methods: In this cohort study, adult and pediatric patients diagnosed with epilepsy (age ≥ 7 years) and a close family member (parents/guardian) attending the outpatient epilepsy clinics at King Fahd Medical City (Riyadh, Saudi Arabia) were interviewed by neurologists.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD.

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Background: Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy.

Methods: Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations.