SCN2A is a sodium ion channel gene located on chromosome 2. It encodes the alpha subunit of the voltage-gated sodium channels (Nav1.2) mainly located in the brain. These channels play an essential role in a cell’s ability to generate and transmit electrical signals. A change in the gene can alter the function of the channel and affect the way nerve impulses are conducted.
What is SCN2A?
Associated Medical Conditions
• ADHD, Global & Speech Delays
• Autism Spectrum Disorder
• Autonomic Dysfunction
• Cerebral Palsy (spasticity, hypotonia)
• Cortical Vision Impairment
• GI Dysfunction (GERD & constipation)
• Intellectual Disability
• Movement Disorders (chorea, ataxia, dystonia)
• Neuropathic Pain
• Sleep Disorders
• Urology problems (UTIs & urinary Retention)
Associated Epilepsy Syndromes
• Benign Familial Infantile Seizures
• Early Infantile Epileptic Encephalopathy
• Ohtahara & West Syndrome
• Infantile Spasms
• Lennox-Gastaut Syndrome
• Migrating Partial Epilepsy of Infancy
• Later onset epilepsy with ASD
Knowledge is power. Our website is full of resources for families and professionals wanting to learn more about SCN2A. We have also partnered with Simons Searchlight to collect data for researchers studying this disease.
Common Specialists Seen By Children With SCN2A
• Complex Care
• Developmental Pediatrician
• Palliative Care
• Occupational, Physical, Speech & Vision Therapist
Patients with SCN2A benefit from a multi-disciplinary team approach with numerous specialists involved to deliver comprehensive care.
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.
SCN2A & Epilepsy
Epilepsies due to SCN2A mutations can have a broad range of phenotypes that are still not fully understood. 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.