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KCNQ2

KCNQ2. By: Elizabeth Shlah. What is it? . Severe form of epilepsy The official name of this gene is “potassium voltage-gated channel, KQT-like subfamily, member 2” Gene involved in the proper functioning of a potassium channel in the brain

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KCNQ2

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  1. KCNQ2 By: Elizabeth Shlah

  2. What is it? Severe form of epilepsy The official name of this gene is “potassium voltage-gated channel, KQT-like subfamily, member 2” Gene involved in the proper functioning of a potassium channel in the brain KCNQ2 encephalopathy (relating to newborns)- less oxygen supply to brain tissue. A mutation in the KCNQ2 gene has been identified in most people with benign familial neonatal seizureswhich can be characterized by reoccurring seizures in newborn babies Seizures develop when neurons in the brain are abnormally excited

  3. Effects?: It effects children shortly after birth Children will experience seizures Many effects of this disease include: difficulties with speech, becomes hard to move body, and they must rely on their parent's for everything developmental delays will become more evident as the child grows older The seizures begin around the third day of life for the new born and usually go away within 1 to 4 months

  4. Cure?: cure No specific treatment Babies can be given medication to help with the seizures, special Ketogenic diet, and therapy Researchers are still doing studies on patients but they need more funding to continue and find a cure

  5. Problem This is a problem because many people don’t know about the disease If we spread awareness, more people can see that it is effecting people and will want to help This has a personal effect on our school and community because it effects the family of one of the teachers at Wheaton North Many students want to help by making donations and participating in activities the school offers and the issue is becoming well known around the school and community

  6. Jack’s Army The goal of the foundation is to use the information gained through research of this specific gene to gain a better understanding of the causes of epilepsy The Jack Pribaz foundation was founded for Jack Pribaz, a three-year-old that suffers from KCNQ2 Helps fund research on this specific gene and to assist the medical world in understanding the causes of epilepsy

  7. Finding Help: • The best way to help this cause is to make a donation to the Jack Pribaz foundation • It is a non-profit organization and all donations go to finding a cure • If you would like to mail a donation, please address checks to: The Jack Pribaz Foundation 27W030 Cypress Lane Winfield, IL, 60190 • http://jacksarmy.org/Donations.html

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