Simons Searchlight Member Amber Freed Looks for a Gene Therapy “Miracle”

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Artikel om Amber Freed og SLC6A1

Citat: Katrine M. Johannesen, M.D., a researcher in Denmark, studied more than 30 people who have SLC6A1 changes. After developing epilepsy, 11 out of 24 children lost cognitive skills, according to her research published in 2018.² In an email, she explained, “What we believe is that the uncontrolled epilepsy causes damage to the brain that is not reversible, which is why it is crucial to have seizure control as fast as possible. Most likely the SLC6A1 mutations cause a great part of the cognitive impairment but the (uncontrolled) seizures contribute as well.”

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SLC6A1, epilepsigenetik