SCN2A is a sodium ion channel gene located on chromosome 2. Sodium ion channels are proteins in cells that allow sodium to pass to the inside. Sodium ion channels play a key role in a cell’s ability to generate and transmit electrical signals.LEARN MORE
What is SCN2A?
Seizure Disorders Associated with SCN2A
Epilepsy, Benign Familial Infantile Seizures, Early Infantile Epileptic Encephalopathy, Ohtahara & West Syndrome, Generalized Epilepsy with Febrile Seizures, Migrating Partial Epilepsy of Infancy (MPEI), Infantile Spasms
Other Medical Challenges Associated with SCN2A
Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder, Developmental/Global Delays, Intellectual Disability, Movement & Speech Disorders, GI & Urology Issues, Cortical Visional Impairment, Sleep Issues, Dysautonomia, Dystonia, GERD, Feeding Issues, Neuropathic Pain, Ataxia and Cerebral Palsy
Currently, there is not a single clinical presentation or phenotype for SCN2A. Researchers are actively studying variants of this gene. The most important step you can take is registering your child through the Simons VIP database where researchers collect data for their studies.
The FamilieSCN2A Foundation has partnered with Simons VIP because of their desire to study genetic changes of SCN2A that cause both Autism and Epilepsy.
You can connect with other families affected by SCN2A throughout the world by finding us on Facebook and requesting to join our PRIVATE group. You can find us by searching for: FamilieSCN2A Community Discussion Group.
Common Specialists Seen By Children With SCN2A
Neurologist, Neuropsychologist, Orthopedist, Gastroenterologist, Urologist, PM&R/Physiatrist, Palliative, Complex Care, Sleep Specialist, Ophthalmologist, Cardiologist, Endocrinologist, Pulmonologist, Autism, Specialist, Occupational, Speech, Vision & Physical Therapists
Children with SCN2A benefit from a team approach with multiple specialists involved in their care. However, each child will vary with the types of specialist on their team.
SCN2A & Autism
It has been discovered that some mutations in SCN2A appear to dampen brain activity and are linked to autism; others have the opposite effect and may lead to seizures during infancy. (Ben-Shalom R. et al. Biol. Psychiatry, 2017).LEARN MORE
SCN2A codes for a channel that allows sodium ions to traverse neurons. In the past two years, it has emerged as one of the genes mostly strongly linked to autism. (Jessica Wright, spectrumnews.org)
SCN2A & Epilepsy
Epilepsies due to SCN2A mutations can have a broad range of phenotypes that are still not fully understood. (Ingo Helbig, Beyond the Ion Channel) Children with SCN2A may have severe forms of epilepsy that start as early as the neonatal and/or infantile stages of life. Those who have very early onset epilepsy may find they are difficult to control. There has been some reported success using sodium channel blockers for those presenting very early on (within the first two months) with seizures.LEARN MORE
Possible seizure diagnosis can range from Benign Familial Infantile Seizures, Early Infantile Epileptic Encephalopathy, Ohtahara & West Syndrome, Generalized Epilepsy with Febrile Seizures, Migrating Partial Epilepsy of Infancy (MPEI) to Infantile Spasms.
Ways To Contribute
Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.