Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation
of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was diagnosed …

Objectives: To assess the frequency of adverse effects among pediatric and adult patients
and the clinical variables associated with a higher probability of developing side effects. …

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 …

Background Autophagy is the major intracellular degradation route in mammalian cells.
Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or …

OBJECTIVE: To assess the mutational and clinical spectrum of spatacsin associated with
autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC). …

Background Neuropsychiatric disorders are common forms of disability in humans. Despite
recent progress in deciphering the genetics of these disorders, their phenotypic complexity …

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

Purpose. To review the postoperative seizure outcomes of patients that underwent surgery
for epilepsy at King Faisal Specialist Hospital & Research Centre (KFSHRC). Methods. A …

Microcephaly‐Capillary Malformation syndrome (MIC‐CAP) is a rare genetic disorder
reported in 18 individuals to date. The clinical features typically include microcephaly, multiple …

Autoimmune encephalitis (AE) has been increasingly recognized in children. An 11-year-old
Saudi boy presented with prodromal symptoms of fever and headache followed by …