Other key features of KCNQ2 include developmental delays, cognitive Impairment, low muscle tone (hypotonia), increased muscle tone in their limbs (spasticity), or features of autism spectrum disorder. About the KCNQ2 Cure Alliance (KCA) The KCNQ2 Cure Alliance is a non-profit organization on ...
The ongoing epilepsy and development were highly variable but overall severe: 15/16 had obvious cognitive impairment, half of the patients became seizure-free, 5/16 could walk before the age of 3 and only 2/16 patient acquired the ability to speak. Conclusion This study confirms that KCNQ2 ...