February 24 was International SCN2A Day.
What is it? [source]
SCN2A is a sodium ion channel gene located on chromosome 2. It encodes the alpha subunit of the voltage-gated sodium channels (Nav1.2) mainly located in the brain. These channels play an essential role in a cell’s ability to generate and transmit electrical signals. A change in the gene can alter the function of the channel and affect the way neuronal impulses are conducted.
Associated Medical Conditions [source]:
Autism Spectrum Disorder; Autonomic Dysfunction; Cerebral Palsy (spasticity, hypotonia); Cortical Vision Impairment; Epilepsy; GI Dysfunction (Reflux & constipation); Intellectual Disability; Movement Disorders (chorea, ataxia, dystonia); Neuropathic Pain; Sleep Disorders; Speech and Language Deficit; Urology problems (infections & urinary Retention)
This clip is part of an effort to raise awareness of this syndrome and promote research into new targeted treatments:
SOURCE: https://www.facebook.com/reel/429612772833118
And here is my drawing of our Haya, who is diagnosed with SCN2A, as she looked about three months ago. (Click to enlarge.)
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