Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.

Scott K Adney John J MillichapJean-Marc DeKeyserTatiana AbramovaChristopher H ThompsonAlfred L George

Published in: Annals of clinical and translational neurology (2020)

Our study demonstrates the value of conducting functional analyses of SCN2A variants of unknown significance to establish pathogenicity and genotype-phenotype correlations. We also show concordance of in vitro pharmacology using heterologous cells with the drug response observed clinically in a case of SCN2A-associated epilepsy.

Keyphrases

early onset
late onset
induced apoptosis
cell cycle arrest
copy number
endoplasmic reticulum stress
oxidative stress
dna methylation
cystic fibrosis
cell death
genome wide
saccharomyces cerevisiae
electronic health record
bacillus subtilis