Updated: Apr 25, 2021
Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha subunit. This gene, when mutated or deleted, is a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel NaV1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This is important in determining appropriate treatment of symptoms and ultimately in finding gene modifying therapies. Prevalence is difficult to say with 100% confidence as a lack of genetic testing, especially for the patients without epilepsy, leaves many undiagnosed. The prediction is approximately 1/ 10,000.
SCN2a Clinical Features
Variants in SCN2A usually fall into one of three disorders: 1) infantile epileptic encephalopathy , characterized by infantile-onset seizures, followed by neurodevelopmental delay; 2) benign (familial) infantile seizures (BISs), characterized by infantile-onset seizures, before 12 months of age, that resolve by 2 years of age without long term problems 3) Autism Spectrum Disorder / Intellectual Disability ASD/ID, characterized by global developmental delay, particularly of social and language milestones. Up to a third of children in the ASD/ID category identified to date also develop childhood-onset seizures after 12 months of age. While most patients with a change in their SCN2A gene fit into one of these three categories, there are some exceptions, including epileptic encephalopathy with choreoathetosis movements, BISs with late-onset episodic ataxia , childhood-onset epileptic encephalopathy , and schizophrenia. Medical comorbidities highly reported in our community are GI issues, sleep disorders / disturbances, cortical visual impairment, movement disorders, urinary retention, ataxia, hypotonia and neuropathic pain. Behavioral comorbidities such as self injurious, ADHD, ADD, and multiple learning disabilities are also common. The majority of the patients with SCN2A disorder are non verbal, intellectually disabled and will require a lifetime of 24/7 care.
Get to Know The FamilieSCN2A Foundation
The FamilieSCN2A Foundation is a registered 501(c)(3) organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. To accomplish our vision and mission, we coordinate and collaborate with the global scientific community to understand the function of the SCN2A gene in order to develop effective treatments and a cure for SCN2A disorders. We increase medical community and public awareness of the complexity and potential severity of SCN2A disorders. We provide educational and emotional support for those affected by SCN2A disorders. And of course, we raise money to fund our goals. In 2020, in the midst of a global pandemic, we are celebrating our 5th birthday as an official non profit. The online support group was launched in 2013 and grew quickly. Today we have over 700 families from around the globe and many more members that follow us through newsletters and emails who are not on social media.
I am especially proud of ...
I must say that our team is the one thing I am most proud of. We consider ourselves stewards to our community and each one works incredibly hard to meet the Foundation's goals. The FamilieSCN2A Foundation holds itself to standards above and beyond the obligations set forth by the governing agencies. When we were organizing, it was critical to each of us to build a foundation that was strong and could sustain us for the long run. We developed values and live by these not only in our professional work, but also in our personal lives. We rely heavily on one another and work closely as a team. As the community has grown, so has our team to include not only family members, but also professionals who lend an outside perspective. This growth has been the instrumental in taking our work to the next phase as we lead our community through clinical trials. Our strategic planning has set the roadmap to success however we have vowed to stay nimble so we can pivot when necessary like this year during the pandemic.
Excited to REN because...
I am happy that REN is working to regroup and find a way to be impactful. Representing the rares and ensuring they have a voice is critical.
My journey and motivation...
When my son, Ben, was diagnosed in 2012 with SCN2A, we were told by the doctors that this is so rare they did not know of any other patients with it. There was nothing available to Google, no support groups to join. They said it is too rare to research and without research there will never be a cure. We thought we were the only ones. We were alone. We had already learned that doctors could be wrong and it did not feel right to just do nothing. I started the very first SCN2A online support group and began my search for another SCN2A mom. Within days there were 2 of us, then 3. A month later we were at 15! Each person joining saying the same thing, "we thought we were the only ones." The tables had turned and now we were teaching the doctors about SCN2A. These relationships, most with moms I still have never met in person, saved us from the loneliness and motivated us to take the next step to make an impact for all affected by SCN2A.
By Leah Myers, Founder, Executive Director