KCNQ2 has been identified as one of the underlying genetic causes leading to other conditions such as Ohtahara syndrome and Autism spectrum disorder. There is also great hope for providing effective treatments - as KCNQ2 is better understood than many other rare disease causes and it is believed that even increasing the channels effectiveness to 50% could result in restoring normal cognitive and motor function.
KCNQ2 Cure Awareness Day Fact:
The gene causing KCNQ2 Encephalopathy was only identified in 2012 and the genetic testing required to diagnose patients with this and many other rare genetic diseases are not covered by most insurance plans nor many governments. Many patients take years to be diagnosed.
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