Performance of the clinical assessment scale for autoimmune encephalitis in a pediatric autoimmune encephalitis cohort.

Background: The Clinical Assessment Scale for Autoimmune Encephalitis (CASE), a new scale used for rating the severity of autoimmune encephalitis (AE), has demonstrated good validity and reliability in adults with AE, but there is a shortage of data on its performance in children with AE. This study aimed to assess the reliability and validity of the CASE in a cohort of children with AE.

Methods: Forty-seven pediatric inpatients with AE who visited Guizhou Provincial People's Hospital between January 1, 2017, and October 31, 2021, were enrolled in the study.

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous Variant: A Case Report and Literature Review.

Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin biosynthesis. Pathogenic variants in are the most common causes of DRD.

A Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.

variants account for 1%-3% of intellectual disability (ID) in females and have been occasionally reported in males. Here, we report a female patient with severe ID and various other features, including epilepsy, movement disorders, behavior problems, sleep disturbance, precocious puberty, dysmorphic features, and hippocampus atrophy. With the use of family-based exome sequencing, we identified a pathogenic variant (c.