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Our Mission


Our mission is to gain a deeper understanding of the effects of GNB1 gene mutations and the cellular mechanisms influenced by this gene.  
The most immediate and urgent focus is finding an effective treatment for epilepsy for individuals with GNB1 mutations.  
We are passionate about sharing this knowledge and the unique characteristics of our children to others with this mutation as well as associated diseases and drugs that target these pathways.  

GNB1 Syndrome

GNB1 Syndrome is a rare disease with less than 100 known cases.  However, this is a recently discovered mutation and previously these individuals may have been misdiagnosed under buckets such as Autism Spectrum, Cerebral Palsy and developmental delays caused by Epilepsy. 
Learn more about those affected by GNB1 mutations, symptoms and diagnosis.  

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Research

Find out more about what we are learning about the human body, disease, epilepsy and a cure for GNB1 Syndrome.

Connecting Families

Connect with other GNB1 families and find out about current treatments.

1 IN 6 KIDS


Are diagnosed with some type of developmental disability, the estimated proportion of kids diagnosed with Autism, Cerebral Palsy or Epilepsy caused by a GNB1 mutation is currently unknown

64


Known cases of GNB1 Syndrome

0


Evidenced based treatments to control epilepsy caused by GNB1 mutations
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