Caregivers
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Your Journey Begins Here
Newly diagnosed?
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Welcome Packet
Continue scrolling to learn more about SCN2A
What does SCN2A stand for?
How does SCN2A present?
Associated Epilepsy Syndromes
- Benign Familial Infantile Seizures
- Early Infantile Epileptic Encephalopathy
(e.g. Ohtahara & West Syndrome) - Later onset epilepsy with ASD
- 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)
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
International
SCN2A Awareness Day
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.
Sodium ion channels are proteins in cells that allow sodium to enter inside to generate and transmit electrical signals.
