Objective We aimed to systematically identify and critically assess the clinical practice
guidelines (CPGs) for the management of critically ill patients with COVID-19 with the AGREE II …

In this study, we report the experience of the only reference clinical next-generation sequencing
lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected …

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic
disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and …

… Muddathir H Hamad MD … Muneera Alshammari MD, Muddathir H Hamad MD &
Mustafa A Salih MD … Muddathir H Hamad MD …

Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans.
Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as …

Background: Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing
encephalopathy characterized by fever, depressed level of consciousness, and seizures. …

Background : Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of
high-quality evidence led to variability among scientific societies recommendations. …

Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of
genetic disorders with a wide spectrum of phenotypes and a high rate of genetically …

Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in children. It is
characterized by raised intracranial pressure (ICP) in the absence of brain parenchymal lesion, …

Next-generation sequencing is commonly used to screen for pathogenic mutations in families
with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some …