Hospital & Health Care - San Francisco, California, United States
Our group of girls have X-linked truncating variants in the SMC1A gene causing Loss-of-Function in gene expression, resulting in intractable seizures along with a broad range of neurodevelopmental and medical challenges.SMC1A Foundation (https://smc1a-epilepsy.org/) is a Non-Profit Organization with the vision to accelerate research, and find effective treatments and ultimately a cure for SMC1A related disorders.