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Progress in understanding and treating SCN2A-mediated disorders

Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel Na(V)1.2. Functional assays demonstrate strong correlation between...

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Detalhes bibliográficos
Publicado no:Trends Neurosci
Main Authors: Sanders, Stephan J., Campbell, Arthur J., Cottrell, Jeffrey R., Moller, Rikke S., Wagner, Florence F., Auldridge, Angie L., Bernier, Raphael A., Catterall, William A., Chung, Wendy K., Empfield, James R., George, Alfred L., Hipp, Joerg F., Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J., Otis, Thomas S., Petrou, Steven, Pitt, Geoffrey, Schust, Leah F., Taylor, Cora M., Tjernagel, Jennifer, Spiro, John E., Bender, Kevin J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6015533/
https://ncbi.nlm.nih.gov/pubmed/29691040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2018.03.011
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