Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative
conditions that affect large motor neurons of the central nervous system. We have …

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 …

We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it
appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with …

Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …

Purpose To investigate the effect of PLXNA1 variants on the phenotype of patients with
autosomal dominant and recessive inheritance patterns and to functionally characterize the …

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder,
with heterogeneous manifestations. We aimed to review the clinical presentation of TSC …

A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia,
and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome …

A 3.5‐year‐old girl had epilepsia partialis continua of the right side. Clinical and laboratory
findings were consistent with Rasmussen's encephalitis. Treatment with high‐dose …

Streptococcus pneumoniae is a common cause of bacterial meningitis, frequently resulting
in severe neurological impairment. A seven-month-old child presenting with Streptococcus …

We describe an adolescent with systemic lupus erythematosus (SLE) and pseudotumor
cerebri (PTC) associated with diffuse white matter lesions (leukoencephalopathy) on …