SCN2A channelopathies: Mechanisms and models.

Abstract:

:Variants in the SCN2A gene, encoding the voltage-gated sodium channel NaV 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with early or late onset and intellectual disability (ID), as well as ID or autism without seizures. Functional analysis of channel defects demonstrated a genotype-phenotype correlation and suggested effective treatment options for one group of affected patients carrying gain-of-function variants. Here, we sum up the functional mechanisms underlying different phenotypes of patients with SCN2A channelopathies and present currently available models that can help in understanding SCN2A-related disorders.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Hedrich UBS,Lauxmann S,Lerche H

doi

10.1111/epi.14731

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

S68-S76

eissn

0013-9580

issn

1528-1167

journal_volume

60 Suppl 3

pub_type

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