Work

Regulation and Mutation of Voltage-Gated Sodium Channel SCN8A (Nav1.6) [electronic resource].

Year: 2013

Type: article

Abstract: in epilepsy. Two additional mutations of SCN8A were identified in patients with epilepsy and one in a patient with intellectual disability. I introduced these mutations into the Nav1.6 cDNA for further electrophysiologcal characterization. This work has advanced understanding of the basic biology of Nav1.6 and the role of genetic variation of SCN8A in human neurological and neuropsychiatric disorders.

Source: University of Michigan Library Repository

Author: O'Brien, Janelle Elizabeth.

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7071119817

FWCI:

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Related to: 10