Neonatal seizures: Etiologies, clinical characteristics, and radiological features: A cross-sectional study.

Seizures are a common clinical indication of central nervous system damage or abnormality in neonates. We aimed to identify the etiologies, clinical characteristics, and radiological features of neonatal seizures. This is a cross-sectional, retrospective, descriptive study using data obtained from the neonatal intensive care unit in King Abdulaziz Medical City (KAMC), a governmental, academic tertiary hospital in Riyadh, Saudi Arabia.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings.

Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in . This gene encodes a multifunctional enzyme involved in the initial steps of pyrimidine synthesis. Uridine treatment has been shown to be effective in this disease.