A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...
CDKL5, one of the five members of the CDKL family of genes, is important for proper neurodevelopment and associated with seizures. However, the role the other four members of this family play in ...
At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...
Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental conditions such as autism spectrum disorder, ...
In a clinical report issued by the American Academy of Pediatrics and published online June 23 in Pediatrics, guidance is provided for pediatricians regarding the genetic evaluation of developmental ...
Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, ...
2025 AUG 28 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Daily News-- Investigators publish new report on Developmental Diseases and Conditions - Autism. According to news reporting ...
Researchers have deepened our understanding of two of the five members of the CDKL family of genes, CDKL2 and CDKL1. They show that variants in these genes can lead to neurodevelopmental conditions, ...