Newly
Diagnosed
Learning that someone you care for has been diagnosed with an SCN2A-related disorder may be overwhelming. We understand—we have been there.
You are not alone! Here you will find a caring community and abundant resources on SCN2A-related disorders (SRDs). Whether you have a newborn baby with epilepsy or are an adult with autism, we welcome ALL those with SRDs. We are glad you found us. This website contains a lot of information, which may be overwhelming at first. We suggest starting with the basics on this 'newly diagnosed' page, then join our private SCN2A Global Support Group on Facebook and sign up for our newsletters. If you feel the need to talk to a real person right away, please email us at info@scn2a.org.
SCN2A Info Sheets
Choose a language to view a collection of brochures in PDF. It may be helpful to print these out for your physicians.
What Does SCN2A Stand For?
How Do SCN2A-Related Disorders Present?
Associated Epilepsy Syndromes
- Benign Familial Infantile Seizures/Self-Limited Infantile Epilepsy
- Early Infantile Epileptic Encephalopathy (e.g. Ohtahara & West Syndrome)
- Later onset epilepsy with Autism Spectrum Disorder
- Lennox-Gastaut Syndrome
- Migrating Partial Epilepsy of Infancy
Associated Medical Conditions
- Autism Spectrum Disorder
- Autonomic Dysfunction
- Cerebral Palsy (spasticity, hypotonia)
- Cortical Vision Impairment
- Epilepsy
- GI Dysfunction (Reflux & constipation)
- Intellectual Disability
- Movement Disorders (chorea, ataxia, dystonia)
- Neuropathic Pain
- Sleep Disorders
- Speech and Language Deficit
- Urology problems (infections & urinary Retention)
Specialists that may be seen by children with SCN2A-related disorders
- Complex Care
- Developmental Pediatrician
- Endocrinologist
- Gastroenterologist
- Geneticist
- Neurologist
- Neuropsychologist
- Ophthalmologist
- Orthopedist
- Palliative Care
- Physiatrist
- Pulmonologist
- Urologist
- Occupational, Physical, Speech & Vision Therapist
Knowledge
is Power
This website is full of resources for families and professionals wanting to learn more about SCN2A-related disorders.
International SCN2A
Awareness Day
The significance of the date 2/24:
Located on the long (q) arm of chromosome 2 at position 24.3 (2/24), the SCN2A gene encodes the voltage-gated sodium channel Nav1.2 mainly located in the brain.
SCN2A Global Support Network
The Global SCN2A Support Network is a PRIVATE Facebook group for parents, caregivers, patients and families of children with SCN2A-related disorders. This unique group fosters a community where families come for support and guidance from others in similar circumstances. This is where you will find people who understand your journey and your daily life. It's priceless.
Other International Groups
