Study of a Novel NUMB Loss-of-Function Mutation Leading to Hyperuricemia and Gout

NUMB Gene Variant: A Novel Mechanism in Gout Development Background Gout is one of the most common forms of inflammatory arthritis worldwide, primarily triggered by the persistent elevation of serum uric acid levels, known as hyperuricemia. Hyperuricemia leads to the deposition of urate crystals, resulting in inflammation of joints and other tissue...

Expanded Clinical Phenotype Spectrum Correlates with Variant Function in SCN2A-Related Disorders

Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...