Northwestern University

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Factors Modifying Neurodevelopmental Disorder-Related Phenotypes in Scn2a K1422E Mice

Description:

SCN2A encodes the NaV1.2 voltage-gated sodium channel, which is thought to contribute to the development of the central nervous system. Pathogenic variants in SCN2A have been associated with neurodevelopmental disorders (NDD), including developmental and epileptic encephalopathies (DEE), intellectual disability (ID), and autism spectrum disorder (ASD). These disorders represent a significant...

Keyword:

neurodevelopmental disorder, mouse model, SCN2A, ion selectivity, sex differences, and strain dependence

Subject:

Molecular biology, Genetics, and Neurosciences

Creator:

Echevarria-Cooper, Dennis Michael

Owner:

Scholarly Digital Publishing

Language:

en

Date Uploaded:

05/31/2023

Date Created:

2023-01-01

Resource Type:

Dissertation

Alternate Identifier:

etdadmin_upload_966256 and http://dissertations.umi.com/northwestern:16435