SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.

"About this title" may belong to another edition of this title.

Store Description

50+ Million Books in stock & ready to ship! Excellent Prices, Service & Selection.

Visit Seller's Storefront

Seller's business information

Sale & Shipping Terms

Terms of Sale

When you see an item on our listing, it means we have it available in one of our warehouses right here right now, ready for same day or next day processing of your order. Over 50+ Million books in stock & ready to ship same day. Customer Service is a top priority for us, we want every customer to be 100% satisfied. We offer the world's largest selection of books, music and video. Maintaining an accurate inventory of more than 50+ Million items, we are able to ship your order the same day it is r...

More Information

Right of cancellation

Shipping Terms

SUPER FAST SHIPPING!

Shipping rates from U.S.A. to United Kingdom

Shipping rates from U.S.A. to United Kingdom
Order quantity	20 to 30 business days	15 to 25 business days
First item	� 22.00	� 73.36

Delivery times are set by sellers and vary by carrier and location. Orders passing through Customs may face delays and buyers are responsible for any associated duties or fees. Sellers may contact you regarding additional charges to cover any increased costs to ship your items.