SCN2A-Related Disorders - Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest

SCN2A-Related Disorders

Buch | Hardcover
75 Seiten
2024
Cambridge University Press (Verlag)
978-1-009-53033-0 (ISBN)
62,30 inkl. MwSt
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.

Introduction; Patient, Family and Foundation Perspectives; Clinical Spectrum and Genotype-Phenotype Correlations; The Biology of SCN2A; Treatment of SCN2A-Related Disorders; Abbreviations; Appendix; References.

Erscheint lt. Verlag 31.12.2024
Reihe/Serie Elements in Genetics in Epilepsy
Zusatzinfo Worked examples or Exercises
Verlagsort Cambridge
Sprache englisch
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Neurologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Humanbiologie
Naturwissenschaften Biologie Zoologie
ISBN-10 1-009-53033-X / 100953033X
ISBN-13 978-1-009-53033-0 / 9781009530330
Zustand Neuware
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