Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
Andrew E. Fry, Christopher Marra, Anna V. Derrick, William Owen Pickrell, Adam T. Higgins, Johann te Water Naudé, Martin A. McClatchey, Sally Davies, Kay Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren Brady, Ronit Mesterman, Mark A. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, Mark I. Rees, Mitchell Goldfarb, Seo‐Kyung Chung
Topics & Concepts
Missense mutationGene isoformIntracellularEncephalopathyBiologyCell biologyMutationGeneticsMedicineInternal medicineGeneFibroblast Growth Factor ResearchEpigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders