- Born: Jan 28 | Variant: SCN2A, c.4976C-T p.(Ala1659Val)
- Heterozygous variant of uncertain significance was identified in the SCN2A gene. Epilepsy.
Hi, I'm Nikol from Kiev, Ukraine.
I like to sleep!
I live in Ukraine with my mom and dad, but I still was not at home. From birth until now (4 months) I havebeen in the hospital, in intensive care. I am diagnosed with epilepsy associated with SCN2A. As a result of this mutation, I have a severe convulsive disorder from birth. After two months, I had a high fever and respiratory failure requiring additional ventilation. We believe in a miracle!