Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.

Methods: This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.

Knowledge and Attitude of Saudi Physicians Toward Cannabidiol for Pediatric Epilepsy: A Cross-Sectional Study.

Background Epilepsy is one of the most common neurological diseases. Various institutions have shown an interest to investigate the role of cannabidiol (CBD) in treating pediatric epilepsy. CBD is a chemical extracted from the cannabis plant and lacks the euphoria-inducing characteristic.

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy.

Predictors of seizure outcome following cortical resection in pediatric and adolescent patients with medically refractory epilepsy.

Several preoperative clinical variables have been reported to have value as predictors of seizure outcome following the surgical resection of epileptogenic focus in adults who have had medically refractory epilepsy. The present paper reports the results of a retrospective review of the ability of these variables to predict seizure outcome in a group of pediatric patients who had medically refractory epilepsy and underwent surgical resection of an epileptogenic focus at the Children's Hospital of Eastern Ontario. Variables in this review included age at first seizure, age at time of surgery, duration of seizures, seizure type, sex, family history, etiology, level of intelligence, EEG data, results of imaging studies, findings on examination of the central nervous system, and location and site of surgical resection.

Reading-induced absence seizures.

Reading epilepsy usually presents with jaw myoclonus and generalized tonic-clonic seizures. We report a 12-year-old girl with absence seizures induced by reading, which were diagnosed by video EEG. An absence seizure with generalized 3-Hz spike-and-wave discharge occurred within 30 seconds of each reading session.