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SCN2A-Related Disorders
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.
96 pages, Paperback
Published January 2, 2025
3 people want to read
About the author
Megan Abbott
63 books6,306 followersMegan Abbott is the Edgar®-winning author of the novels Die a Little, Queenpin, The Song Is You, Bury Me Deep, The End of Everything, Dare Me, The Fever, You Will Know Me and Give Me Your Hand.
Abbott is co-showrunner, writer and executive producer of DARE ME, the TV show adapated from her novel. She was also a staff writer on HBO's THE DEUCE. Her writing has also appeared in the New York Times, the Guardian, Wall Street Journal, the Los Angeles Times Magazine, The Believer and the Los Angeles Review of Books.
Born in the Detroit area, she graduated from the University of Michigan and received her Ph.D. in English and American literature from New York University. She has taught at NYU, SUNY and the New School University and has served as the John Grisham Writer in Residence at The University of Mississippi.
She is also the author of a nonfiction book, The Street Was Mine: White Masculinity in Hardboiled Fiction and Film Noir, and the editor of A Hell of a Woman, an anthology of female crime fiction. She is currently developing two of her novels, Dare Me and The Fever, for television.
Abbott is co-showrunner, writer and executive producer of DARE ME, the TV show adapated from her novel. She was also a staff writer on HBO's THE DEUCE. Her writing has also appeared in the New York Times, the Guardian, Wall Street Journal, the Los Angeles Times Magazine, The Believer and the Los Angeles Review of Books.
Born in the Detroit area, she graduated from the University of Michigan and received her Ph.D. in English and American literature from New York University. She has taught at NYU, SUNY and the New School University and has served as the John Grisham Writer in Residence at The University of Mississippi.
She is also the author of a nonfiction book, The Street Was Mine: White Masculinity in Hardboiled Fiction and Film Noir, and the editor of A Hell of a Woman, an anthology of female crime fiction. She is currently developing two of her novels, Dare Me and The Fever, for television.
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