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KPTN Mutation - any others?
Sun, 12/29/2019 - 20:34My 12-year-old daughter has a rare genetic disorder resulting from a mutation on her KPTN gene that appears to be the cause of her epilepsy. Are there any others out there who have received this diagnosis? Thus far we're only aware of 10 families in the world...
Hi, Thank you for posting.
Submitted by Anonymous on Tue, 2019-12-31 - 12:20
Hi, Thank you for posting. For additional information about KPTN gene mutation please visit: https://ghr.nlm.nih.gov/gene/KPTNYou all may want to consider joining our Rare Epilepsy Network,(REN). Participating in the REN network offers may benefits, including improving the quality of care for people living with rare epilepsies, finding better treatments, helping researchers understand your child’s rare epilepsy and much more. The more people that join the REN, the more information we will have about each rare epilepsy and the faster epilepsy researchers will be able to understand their cause, improve treatments and develop cures. To learn more about REN and how to participate, please visit: https://www.epilepsy.com/make-difference/research-and-new-therapies/engagement/rare-epilepsy-network-renIt’s common for those who are in caregiver role to feel overwhelmed, but it is just as important to make sure you’re taking care of yourself as well.https://www.epilepsy.com/living-epilepsy/parents-and-caregivers It can be helpful to connect with other parents who may have similar experiences, to ask questions, find &give support to each other, by visiting: https://www.epilepsy.com/living-epilepsy/parents-and-caregivers/parents-helping-parents Or contact our 24/7 Helpline, where trained information specialists are available to answer your questions, offer help, hope, support, guidance, and access to national and local resources. 1-800-332-1000, contactus@efa.org. epilepsy.com/helpline