Purpose Congenital microcephaly (CM) is an important birth defect with long term neurological
sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients …

Inherited aberrancies in intracellular vesicular transport are associated with a variety of
neurological and non‐neurological diseases. RUSC 2 is a gene found on chromosome 9p13.3 …

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

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition
caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an …

An increasing number of mitochondrial diseases are found to be caused by pathogenic
variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes …

Purpose Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease.
Patients may not demonstrate low asparagine levels, which highlights the advantage of …

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, …

Compound heterozygous mutations in SHQ1 have been associated with a rare and severe
neurological disorder characterized by global developmental delay (GDD), cerebellar …

Objective: To increase the use of evidence-based approaches in the diagnosis, investigations
and treatment of Convulsive Status Epilepticus (CSE) in children in relevant care settings. …

Purpose and Background To evaluate the electro-clinical manifestations and outcomes of
children with absence epilepsy at a tertiary center in Saudi Arabia. Methods This retrospective …