Joseph Symonds

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.

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.

The 18th century was a wealth of knowledge, exploration and rapidly growing technology and expanding record-keeping made possible by advances in the printing press. In its determination to preserve the century of revolution, Gale initiated a revolution of its own: digitization of epic proportions to preserve these invaluable works in the largest archive of its kind. Now for the first time these high-quality digital copies of original 18th century manuscripts are available in print, making them highly accessible to libraries, undergraduate students, and independent scholars.The Age of Enlightenment profoundly enriched religious and philosophical understanding and continues to influence present-day thinking. Works collected here include masterpieces by David Hume, Immanuel Kant, and Jean-Jacques Rousseau, as well as religious sermons and moral debates on the issues of the day, such as the slave trade. The Age of Reason saw conflict between Protestantism and Catholicism transformed into one between faith and logic -- a debate that continues in the twenty-first century.++++The below data was compiled from various identification fields in the bibliographic record of this title. This data is provided as an additional tool in helping to insure edition identification: ++++British LibraryT186474Edinburgh: printed by John Mosman and Company, 1721. 2], iv, 18],282p.; 12