Hello, we are registered as part of the Simon’s Research Foundation and participating in their research. We would like the opportunity to get a functional analysis of our son’s variant. He has a null mutation p.E75X c.223. Because the null variant is automatically identified as LoF, no research laboratory has agreed to conduct an actual functional analysis (Barcelona and Tim Benke’s lab).
That said, the composition of t our son’s NMDAR and functionality of the receptors is still unknown. We would like to get a functional analysis to understand just how the receptor functions. Is this possible?
Thank you
Crystal Brown says:
Hello. My name is Crystal Brown. My daughter Maisie has a Grin2b mutation, c.4018 T>G p.F1340V. I was told you might be interested in my daughter because of how severe her case is. Maisie is 2.5 and still developmentally a newborn, she suffers from infantile spasms and seizures. She also has a tracheostomy, is ventilator dependent and has a gtube because she is unable to suck or swallow and is non mobile. She had the exome testing done and no other genetic conditions came back, so she only has a grin2b mutation. I just wanted to make you aware of her. Thank you for your time.
Hello, we are registered as part of the Simon’s Research Foundation and participating in their research. We would like the opportunity to get a functional analysis of our son’s variant. He has a null mutation p.E75X c.223. Because the null variant is automatically identified as LoF, no research laboratory has agreed to conduct an actual functional analysis (Barcelona and Tim Benke’s lab).
That said, the composition of t our son’s NMDAR and functionality of the receptors is still unknown. We would like to get a functional analysis to understand just how the receptor functions. Is this possible?
Thank you
Hello. My name is Crystal Brown. My daughter Maisie has a Grin2b mutation, c.4018 T>G p.F1340V. I was told you might be interested in my daughter because of how severe her case is. Maisie is 2.5 and still developmentally a newborn, she suffers from infantile spasms and seizures. She also has a tracheostomy, is ventilator dependent and has a gtube because she is unable to suck or swallow and is non mobile. She had the exome testing done and no other genetic conditions came back, so she only has a grin2b mutation. I just wanted to make you aware of her. Thank you for your time.