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DiscussionRisk of passing epilepsy to children
Epilepsy & Seizures | Last Active: Apr 3 8:57pm | Replies (15)Comment receiving replies
Replies to "Epilepsy does run in families. Over 100 Epilepsy related genes have been found. I was the..."
Hi, My son had ehilepcy during his childnood and fortunately recovered. He got married and has a doughter. My grand doughter is diagnosed with epilepcy when she became 16 years. Unfortunately I don’t hear much about how she is doing because she lives a part.
My son is concerned for his daughters also. A link to the National Center for Biotechnology Information website with more information on EGI studies, should you choose to look into that. I wish the best for you and your family.
Normal Disclaimer: Do not open links to websites from unknown sources.
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001551.v1.p1#:~:text=The%20Epilepsy%20Genetics%20Initiative%20%28EGI%29%20was%20created%20in,a%20secure%20genetic%20diagnosis%20from%20their%20initial%20sequencing.
Acknowledgement Statement: Please cite/reference the use of dbGaP data by including the dbGaP accession phs001551.v1.p1. Additionally, use the following statement to acknowledge the submitter(s) of this study:
All publicity and publications that utilize data generated through the EGI Collaborative will acknowledge in a prominent position the contributions of CURE via reference to the 'Epilepsy Genetics Initiative, A Signature Program of CURE'.
Thanks for the info regarding EGI @jakedduck1. I will be giving this info to my son, actually all my children.
My son has suffered with uncontrolled seizures for 25 years. We've done SEEG's Laser surgery and had a VNS implanted . We've tried every know ASM
on the market and have been participating with the Zenon 1101 research project for over two years, all with limited success. I've always thought that our doctors were treating the symptoms not the cusec of epilepsy. Finally Mayo referred us to a new department that was doing genetic testing. The test done by a company called Invitae. They did a analysis for over 320 known genes that causes epilepsy. Within two weeks the test came back identifying a single variant gene called NPRL3 that was the cause of my sons hereditary Epilepsy. Knowing the genesis of our seizures gives us new hope and optimism for a treatment and a cure. If you have not been tested genetically, I encourage you to have that discussion with your doctor ASAP
Hi Jack, thank you for your reply. My grandsons do not show any epilepcy signs. Some neurologists I contacted told me there is no preemptive method to follow. What kind of genetic tests can be conducted when there is no symptom?Any idea?