Community Forum Archive
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Genetic cause for epilepsy
Sun, 06/30/2019 - 20:05Topic: Medication Issues
Anyone else have a genetic cause for epilepsy? We've recently found out our son, 8 months old, has a single letter mutation at the GABRB3 gene. Looking for others with the same or similar background to see if we can find a solution using gene therapy or crispr/cas9 technology, worldwide. Our mutation is specifically at position 757 C < A. This has cause refractory epilepsy and his seizures are difficult to control on medication. We are so thankful for him to be born in a time where this technology is becoming available, as it would otherwise traditionally be treated with several medications for the rest of his life, without hope of retraction.
My daughter (16) has Sturge
Submitted by debjaeger on Thu, 2019-07-25 - 10:10
My daughter (16) has Sturge Weber Syndrome and I know the Gene that causes it was just discovered a year or two ago , but now sure which one.