This is extremely important research that refers to this specific genetic variance, SLC6A8. Many of you are acquiring genetic testing in your efforts to discover what genetic variance can be causing your child or loved one’s seizures. The SLC6A8 deletion has to do with that X-linked cerebral creatine transporter. This deletion can result in symptoms including seizures, cognitive and developmental difficulties. Lab tests would reveal reduced cerebral creatine levels.
The researchers were successful in stopping seizures with the induction of a transporter and two amino acids.
“Treatment with creatine monohydrate, to enhance cerebral creatine transport, combined with l-arginine and l-glycine, to enhance cerebral creatine synthesis, resulted in complete resolution of seizures.”
Please share this with other parents and adults.
Bringing much light,
Lynn
