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Product

Pathogenic in-Frame Variants in SCNA8: Expanding the Genetic Landscape of SCN8A-Associated Disease

Center:

AR-Partners for Inclusive Communities, UCEDD/LEND

Fiscal Year:

2022

Contact Information:

Renee Holmes
[email protected]
479-871-2836

Product Description:

Most mutations result in epileptic encephalopathy; however, some are associated with less severe phenotypes. In the current study, we report the generation and characterization of two Scn8a mouse models carrying overlapping in-frame deletions within the voltage sensor of domain 4. Both mouse lines show increased seizure susceptibility and infrequent spontaneous seizures.

Keyword(s):

SCN8A

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

Electronic (disc, CD, 508 compliant web posting)

To Obtain Copies (URL or Email):

https://www.frontiersin.org/articles/10.3389/fphar.2021.748415/full

COVID-19 Related Data:

N/A