Publications by authors named "Joshua W Owens"
Introduction: Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of . Variants in this final exon of interrupt the regulatory PEST domain, leading to enhanced signaling due to prolonged cellular half-life. Individuals with LMS are expected to have multiple lateral meningoceles, developmental delay, neonatal hypotonia, dysmorphic facial features, and feeding difficulties.
View Article and Find Full Text PDFArticle Synopsis
- X-linked creatine transporter deficiency results from mutations in the SLC6A8 gene, leading to neuropsychiatric issues due to reduced creatine uptake in the body.
- Treatment with creatine, arginine, and glycine is suggested to help manage symptoms, with limited prior cases documented for females.
- A case study of a female patient showed significant improvement in symptoms and brain creatine levels after 8 months of supplementation, supporting its use in female patients with this condition.
Introduction: Joubert syndrome (JS) arises from defects of primary cilia resulting in potential malformations of the brain, kidneys, eyes, liver, and limbs. Several of the 35+ genes associated with JS have recognized genotype/phenotype correlations, but most genes have not had enough reported individuals to draw meaningful conclusions.
Methods: A PubMed literature review identified 688 individuals with JS across 32 genes and 112 publications to bolster known genotype/phenotype relationships and identify new correlations.
Article Synopsis
- The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
- Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
- Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.