Mutations of the SLC46A1 gene that encodes the proton-coupled folate transporter (PCFT) result in CFD syndromes with both systemic folate deficiency and cerebral folate deficiency. Even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Pregnancy
Folate deficiency can occur during pregnancy as a result of the increasing number of cells of the growing fetus, decreased absorption and intake of folate, maternal hormones that mediate its metabolism, vascular circulation of maternal and fetal blood and an increasing amount of blood resulting in dilution. Sickle cell anemia and living in areas of malaria result in even higher folate needs for women who are pregnant. When supplemented with 450 micrograms of folic acid per day, the risk of developing birth defects, specifically neural tube defects, is decreased. Supplementation to prevent birth defects is most effective one month prior to and during the first twelve weeks of pregnancy. Utilization of folic acid supplementation before conception has shown to result in a decrease in neural tube defects by 70%. Diagnosis
Folate deficiency is diagnosed with a blood test to measure the serum level of folate, measured as methyltetrahydrofolate (in practice, "folate" refers to all derivatives of folic acid, but methylhydrofolate is the quasi unique form of "folate" in the blood). Homocysteine is elevated (5-MTHF is used to convert homocysteine to methionine) as in vitamin B12 deficiency, whereas methylmalonic acid is normal (elevated in vitamin B12 deficiency).
Determining what kind of seizure that someone has had. Determining if this seizure or seizures are a part of a specific epilepsy syndrome or disease. Treatment
The treatment of reflex epilepsy generally involves decreasing exposure to a persons triggers as well as anti-epileptic medications. Specific treatment depends both on the person as well on the kind of reflex triggers. For example, in photosensitive epilepsy, some people may rely only on managing exposure to their triggers, while others, may benefit greatly from anti-epileptic drugs. In addition, different anti-epileptic medications may be used in order to treat a given persons reflex epilepsy depending on the kind of seizures that they experience. Photosensitive epilepsy
Photosensitive reflex epilepsy is usually treated with both lifestyle changes and anti-epileptic medications. Some lifestyle modifications that may be recommended are limiting the amount of time one is exposed to television or screens, watching television in a bright well-lit room at a distance of at least 2 meters, and avoiding television or video games when tired. LCD TV screens or Televisions with higher refresh rates (100 Hz) cause less flickering and thus lower the likelihood of a seizure. In addition, special blue lens Z1 glasses have been shown to reduce seizures in many people with photosensitive reflex epilepsy.If the above lifestyle modifications do not manage the condition, anti-epileptic medications may also be used. Valproate is usually the first line medication of choice in people with photosensitive reflex epilepsy with many people becoming seizure free.