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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 neuronal impulses are conducted.
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How Does SCN2A Present?
The current published literature suggests two main presentations: gain of function of the sodium channel or a loss of function of the sodium channel. A gain of function mutation leads to improper channel closing, causing more sodium to enter the cells and excess neuronal firing or excitability. A loss of function mutation leads to improper channel opening, causing less sodium to enter the cells and insufficient neuronal firing. Having a good understanding of this can help guide proper therapeutic decisions.
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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)
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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
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Newly Diagnosed
Knowledge is power. Our website is full of resources for families and professionals wanting to learn more about SCN2A Disorders.
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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. -
When is International SCN2A Awareness Day?
Celebrate International SCN2A Awareness Day on February 24th! 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.
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