J Child Neurol
March 2023
New-onset psychosis in the pediatric population poses many diagnostic challenges. Given the diversity of underlying causes, which fall under the purview of multiple medical specialties, a timely, targeted, yet thorough workup requires a systematic and coordinated approach. A committee of expert pediatric physicians from the divisions of emergency medicine, psychiatry, neurology, hospitalist medicine, and radiology convened to create and implement a novel clinical pathway and approach to the pediatric patient presenting with new-onset psychosis.
View Article and Find Full Text PDFNeural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1.
View Article and Find Full Text PDFObjective: One of the clinical hallmarks of tuberous sclerosis complex (TSC) is radiologically identified cortical tubers, which are present in most patients. Intractable epilepsy may require surgery, often involving invasive diagnostic procedures such as intracranial electroencephalography (EEG). Identifying the location of the dominant tuber responsible for generating epileptic activities is a critical issue.
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