Alpha-helical linker regions between tandem GAF domains in PDE5 and 10 are essential for intramolecular signal transmission through subtle interactions between upstream and downstream GAF domains. Mutations within the first ...
The rare epilepsy disorders Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) and Autosomal Dominant Sleep-related Hypermotor Epilepsy (AD)SHE are characterized by early onset of severe seizures. Both disorders are ...