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SCN2A-Related Disorders
Megan Abbott
Kevin J. Bender
Andreas Brunklaus
Scott Demarest
Shawn Egan
Isabel Haviland
Jennifer A. Kearney
Leah Schust Myers
Heather E. Olson
Stephan J. Sanders
Christina SanInocencio
Joseph Symonds
Christopher H. Thompson
出版
Cambridge University Press
, 2024-07-31
主題
Medical / Neurology
ISBN
1009530372
9781009530378
URL
http://books.google.com.hk/books?id=O4Os0AEACAAJ&hl=&source=gbs_api
註釋
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.