Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.

ABSTRACT:

Background

To investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A-related developmental epileptic encephalopathy (DEE).

Methods

We enrolled five DEE patients with five de novo variants of the SCN2A. Functional analysis and pharmacological features of Nav1.2 channel protein expressed in HEK293T cells were characterized by whole-cell patch-clamp recording.

Results

The phenotypes of c.4712T>C(p. I1571T), c.2995G>A(p.E999K), and c.4015A>G(p. N1339D) variants showed similar characteristics, including early seizure onset with severe to profound intellectual disability. Electrophysiological recordings revealed a hyperpolarizing shift in the voltage dependence of the activation curve and smaller recovery time constants of fast-inactivation than i

SUBMITTER: Miao P 

PROVIDER: S-EPMC7336724 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature