NEW DIAGNOSIS

  • What is SCN2A?

    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.

  • 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

  • Newly Diagnosed

    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
    • Endocrinologist
    • Gastroenterologist
    • Geneticist
    • Neurologist
    • Neuropsychologist
    • Ophthalmologist
    • Orthopedist
    • Palliative Care
    • Physiatrist
    • Pulmonologist
    • Urologist
    • 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).

    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)

    LEARN MORE
  • 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.

    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.

    LEARN MORE

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.

FUNdraising

FUNdraising is not only about money, it also raises public awareness of SCN2A and the issues around rare diseases in general.

Raise Awareness

Share your story with friends and family, in private and/or through social media. Share our website with them.

Donate

Make a tax deductible donation directly to the FamileSCN2A Foundation to be used for raising awareness, research and supporting families

Raise Funds

Sign up with Amazon Smiles and iGive, automated programs that donate a portion of online sales to charity.

FirstGiving

Set up your own ‘First Giving’ page through the foundation to collect online donations.

Have a Party!

There are many direct sales vendors who would be happy to do a fundraiser for you.

Connect / Support / Research

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!