Paroxysmal Extreme Pain Disorder (PEXPD)

Paroxysmal Extreme Pain Disorder, also known as familial rectal pain, is related to developmental and epileptic encephalopathy 1 and neuropathy, hereditary sensory and autonomic, type vii, and has symptoms including pain An important gene associated with Paroxysmal Extreme Pain Disorder is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. Affiliated tissues include spinal cord and skin, and related phenotypes are seizure and constipation