KCNA2-related disorders

KCNA2-related disorders are caused by mutations to the Kv1.2 channels encoded by the KCNA2 gene. These neurological disorders are associated with a spectrum of symptoms including seizures, developmental and epileptic encephalopathies, cognitive and intellectual disabilities, and movement and motor disorders.

Diagnosis of KCNA2-related disorders comes from genetic testing, usually completed after signs of seizures, missed developmental milestones, or unusual motor development. The vast majority of cases are de novo mutations and all occur in the voltage-gated potassium channel KCNA2 causing too much, too little, or a mixed effect of excitability in the neurons of the brain. There is no cure, but 4-aminopyridine is a targeted drug therapy that has been studied to help treat gain-of-function and some mix-of-function mutations. Management of the disease includes anti-epileptic medications to control seizures and therapies to assist with development.

This article is issued from Wikipedia. The text is available under Creative Commons Attribution-Share Alike 4.0 unless otherwise noted. Additional terms may apply for the media files.