Key result
Review summarizes functional mechanisms underlying SCN2A channelopathy phenotypes and currently available disease models.
This review summarizes the mechanisms and models of SCN2A channelopathies, highlighting genotype-phenotype correlations and potential targeted treatments for gain-of-function variants.
Supports mechanistic models of SCN2A channelopathies; leaves open clinical adoption of targeted therapies.
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.
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Hedrich et al. (2019) conducted a review in SCN2A channelopathies. This review summarizes the functional mechanisms underlying different phenotypes of SCN2A channelopathies and presents currently available models to help understand SCN2A-related disorders.
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