Cure KCNH1 Foundation

KCNH1-related epileptic encephalopathy is an ultra-rare neurological disorder caused by a mutation in the KCNH1 gene; exact prevalence is unknown, and there are probably many cases that are undiagnosed due to lack of access to genetic testing, but currently there are under 100 known cases in the world. Some cases lead to severe, early-onset, intractable (unresponsive to medications) seizures and encephalopathy (widespread disease of the brain that results in altered structure and function).