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- SCN2A
The SCN2A gene helps regulate neuronal excitability, support brain development, and contribute to learning and memory Changes in the SCN2A gene can cause a range of health issues known as SCN2A-related disorders (SRD)
- Newly Diagnosed - FamilieSCN2A Foundation
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
- Clinical Information - FamilieSCN2A Foundation
The SCN2A gene is located on the long (q) arm of chromosome 2 at position 24 3 The SCN2A gene encodes (contains instructions for) the NaV1 2 sodium channel which plays a key role in both action potential propagation (signaling) in neurons and synaptic plasticity (learning)
- About Us - FamilieSCN2A Foundation
Learn about the realities of living with a rare disease caused by the SCN2A gene: The challenges and the triumphs; the joy and the pain We share our stories to raise awareness, transform statistics into personal experiences, and inspire action toward support and advocacy
- FamilieSCN2A Foundation - What is SCN2A
SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay SCN2A encodes a neuronal voltage gated sodium channel, NaV1 2 that is primarily found in excitatory neurons throughout the brain
- Team Members - FamilieSCN2A Foundation
The SCN2A gene helps regulate neuronal excitability, support brain development, and contribute to learning and memory Changes in the SCN2A gene can cause a range of health issues known as SCN2A-related disorders (SRD)
- SCN2A-Related Disorders
Pathogenic variants in the SCN2A gene are associated with a broad spectrum of complex NDD that are collectively designated as SCN2A-related disorders The primary clinical manifestations include epilepsy, ASD, movement disorders, and ID
- The Genetics of SCNA2 - FamilieSCN2A Foundation
In this recording, Dr Kevin Bender and Dr Stephan Sanders detail advances in understanding how different mutations (variants) in SCN2A contribute to the different forms of epilepsy and how these variants contrast with those that contribute to autism
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